nsv4388400
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:32,053
- Publication(s):Zarrei 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: 198 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 38 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4388400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nsv4388400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15616599 | copy number loss | 1-0862-004 | SNP array | Genotyping | 25 |
nssv15618315 | copy number loss | 1-0862-003 | SNP array | Genotyping | 23 |
nssv15622864 | copy number loss | 1-0231-003 | SNP array | Genotyping | 21 |
nssv15642537 | copy number loss | 15-1131-004 | SNP array | Genotyping | 20 |
nssv15642984 | copy number loss | 15-1131-002 | SNP array | Genotyping | 21 |
nssv15666621 | copy number loss | 7-0125-003 | SNP array | Genotyping | 25 |
nssv15671901 | copy number loss | 9-0019-003 | SNP array | Genotyping | 20 |
nssv15672984 | copy number loss | 9-0019-002 | SNP array | Genotyping | 27 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15616599 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15618315 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15622864 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15642537 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15642984 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15666621 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15671901 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15672984 | Remapped | Perfect | NC_000002.12:g.(?_ 223683151)_(223715 203_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 223,683,151 | 223,715,203 |
nssv15616599 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15618315 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15622864 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15642537 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15642984 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15666621 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15671901 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 | ||
nssv15672984 | Submitted genomic | NC_000002.11:g.(?_ 224547868)_(224579 920_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 224,547,868 | 224,579,920 |