nsv3318029
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,272
- Publication(s):Frenkel et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 406 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 406 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3318029 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nsv3318029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14467643 | copy number loss | M1206 | SNP array | SNP genotyping analysis | 63 |
nssv14467759 | copy number loss | M2103 | SNP array | SNP genotyping analysis | 14 |
nssv14468341 | copy number loss | M2143 | SNP array | SNP genotyping analysis | 20 |
nssv14468377 | copy number loss | M2147 | SNP array | SNP genotyping analysis | 18 |
nssv14468398 | copy number loss | M2148 | SNP array | SNP genotyping analysis | 16 |
nssv14468578 | copy number loss | M2166 | SNP array | SNP genotyping analysis | 16 |
nssv14468656 | copy number loss | M2174 | SNP array | SNP genotyping analysis | 19 |
nssv14468835 | copy number loss | M2185 | SNP array | SNP genotyping analysis | 20 |
nssv14468857 | copy number loss | M2186 | SNP array | SNP genotyping analysis | 15 |
nssv14469310 | copy number loss | M2224 | SNP array | SNP genotyping analysis | 16 |
nssv14469503 | copy number loss | M2243 | SNP array | SNP genotyping analysis | 24 |
nssv14469537 | copy number loss | M2247 | SNP array | SNP genotyping analysis | 20 |
nssv14469623 | copy number loss | M2255 | SNP array | SNP genotyping analysis | 20 |
nssv14469779 | copy number loss | M2268 | SNP array | SNP genotyping analysis | 13 |
nssv14469864 | copy number loss | M2277 | SNP array | SNP genotyping analysis | 14 |
nssv14470061 | copy number loss | M2304 | SNP array | SNP genotyping analysis | 18 |
nssv14470478 | copy number loss | M2350 | SNP array | SNP genotyping analysis | 18 |
nssv14470595 | copy number loss | M2361 | SNP array | SNP genotyping analysis | 25 |
nssv14470657 | copy number loss | M2366 | SNP array | SNP genotyping analysis | 23 |
nssv14470836 | copy number loss | M2386 | SNP array | SNP genotyping analysis | 20 |
nssv14471091 | copy number loss | M2406 | SNP array | SNP genotyping analysis | 18 |
nssv14471171 | copy number loss | M2420 | SNP array | SNP genotyping analysis | 24 |
nssv14471289 | copy number loss | M2430 | SNP array | SNP genotyping analysis | 16 |
nssv14471353 | copy number loss | M2435 | SNP array | SNP genotyping analysis | 22 |
nssv14471653 | copy number loss | M2471 | SNP array | SNP genotyping analysis | 19 |
nssv14471752 | copy number loss | M2488 | SNP array | SNP genotyping analysis | 18 |
nssv14471878 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14467643 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14467759 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468341 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468377 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468398 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468578 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468656 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468835 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14468857 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469310 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469503 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469537 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469623 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469779 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14469864 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14470061 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14470478 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14470595 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14470657 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14470836 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471091 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471171 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471289 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471353 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471653 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471752 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14471878 | Remapped | Perfect | NC_000018.10:g.(?_ 44396866)_(4440213 7_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,396,866 | 44,402,137 |
nssv14467643 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14467759 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468341 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468377 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468398 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468578 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468656 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468835 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14468857 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469310 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469503 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469537 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469623 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469779 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14469864 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14470061 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14470478 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14470595 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14470657 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14470836 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471091 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471171 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471289 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471353 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471653 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471752 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 | ||
nssv14471878 | Submitted genomic | NC_000018.9:g.(?_4 1976831)_(41982102 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 41,976,831 | 41,982,102 |