nsv3318436
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,597
- 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: 1366 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1366 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3318436 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nsv3318436 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14468319 | copy number loss | M2138 | SNP array | SNP genotyping analysis | 27 |
nssv14468500 | copy number loss | M2159 | SNP array | SNP genotyping analysis | 9 |
nssv14468945 | copy number loss | M2191 | SNP array | SNP genotyping analysis | 24 |
nssv14469407 | copy number loss | M2233 | SNP array | SNP genotyping analysis | 9 |
nssv14469575 | copy number loss | M2249 | SNP array | SNP genotyping analysis | 21 |
nssv14470189 | copy number loss | M2319 | SNP array | SNP genotyping analysis | 20 |
nssv14470457 | copy number loss | M2341 | SNP array | SNP genotyping analysis | 23 |
nssv14470551 | copy number loss | M2356 | SNP array | SNP genotyping analysis | 15 |
nssv14470609 | copy number loss | M2361 | SNP array | SNP genotyping analysis | 25 |
nssv14471297 | copy number loss | M2430 | SNP array | SNP genotyping analysis | 16 |
nssv14471307 | copy number loss | M2431 | SNP array | SNP genotyping analysis | 12 |
nssv14471346 | copy number loss | M2433 | SNP array | SNP genotyping analysis | 21 |
nssv14471472 | copy number loss | M2454 | SNP array | SNP genotyping analysis | 17 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14468319 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14468500 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14468945 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14469407 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14469575 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14470189 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14470457 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14470551 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14470609 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14471297 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14471307 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14471346 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14471472 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136849 837_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,849,837 |
nssv14468319 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14468500 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14468945 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14469407 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14469575 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14470189 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14470457 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14470551 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14470609 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14471297 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14471307 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14471346 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 | ||
nssv14471472 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137862 080_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,862,080 |