nsv3318230
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,732
- 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: 350 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nsv3318230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467863 | copy number loss | M2113 | SNP array | SNP genotyping analysis | 15 |
| nssv14468268 | copy number loss | M2136 | SNP array | SNP genotyping analysis | 54 |
| nssv14468308 | copy number loss | M2138 | SNP array | SNP genotyping analysis | 27 |
| nssv14468444 | copy number loss | M2155 | SNP array | SNP genotyping analysis | 15 |
| nssv14468463 | copy number loss | M2157 | SNP array | SNP genotyping analysis | 20 |
| nssv14468816 | copy number loss | M2182 | SNP array | SNP genotyping analysis | 32 |
| nssv14469125 | copy number loss | M2203 | SNP array | SNP genotyping analysis | 16 |
| nssv14469312 | copy number loss | M2224 | SNP array | SNP genotyping analysis | 16 |
| nssv14469415 | copy number loss | M2234 | SNP array | SNP genotyping analysis | 10 |
| nssv14469616 | copy number loss | M2254 | SNP array | SNP genotyping analysis | 14 |
| nssv14469737 | copy number loss | M2262 | SNP array | SNP genotyping analysis | 19 |
| nssv14469815 | copy number loss | M2272 | SNP array | SNP genotyping analysis | 13 |
| nssv14469961 | copy number loss | M2291 | SNP array | SNP genotyping analysis | 38 |
| nssv14470328 | copy number loss | M2331 | SNP array | SNP genotyping analysis | 21 |
| nssv14470415 | copy number loss | M2338 | SNP array | SNP genotyping analysis | 17 |
| nssv14470482 | copy number loss | M2350 | SNP array | SNP genotyping analysis | 18 |
| nssv14470522 | copy number loss | M2354 | SNP array | SNP genotyping analysis | 21 |
| nssv14470700 | copy number loss | M2370 | SNP array | SNP genotyping analysis | 18 |
| nssv14470771 | copy number loss | M2374 | SNP array | SNP genotyping analysis | 13 |
| nssv14470921 | copy number loss | M2393 | SNP array | SNP genotyping analysis | 18 |
| nssv14471402 | copy number loss | M2438 | SNP array | SNP genotyping analysis | 18 |
| nssv14471515 | copy number loss | M2459 | SNP array | SNP genotyping analysis | 14 |
| nssv14471866 | copy number loss | M2498 | SNP array | SNP genotyping analysis | 22 |
| nssv14471911 | copy number loss | M2505 | SNP array | SNP genotyping analysis | 15 |
| nssv14471967 | copy number loss | M2512 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467863 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14468268 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14468308 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14468444 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14468463 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14468816 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469125 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469312 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469415 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469616 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469737 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469815 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14469961 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470328 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470415 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470482 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470522 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470700 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470771 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14470921 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14471402 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14471515 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14471866 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14471911 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14471967 | Remapped | Perfect | NC_000002.12:g.(?_ 183930998)_(183938 729_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,930,998 | 183,938,729 |
| nssv14467863 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14468268 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14468308 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14468444 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14468463 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14468816 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469125 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469312 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469415 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469616 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469737 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469815 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14469961 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470328 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470415 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470482 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470522 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470700 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470771 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14470921 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14471402 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14471515 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14471866 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14471911 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 | ||
| nssv14471967 | Submitted genomic | NC_000002.11:g.(?_ 184795725)_(184803 456_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,795,725 | 184,803,456 |