nsv3213739
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,600
- Publication(s):Chaisson 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: 126 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3213739 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nsv3213739 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14374317 | deletion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
| nssv14375423 | deletion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14379732 | deletion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
| nssv14380451 | deletion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14381367 | deletion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
| nssv14383110 | deletion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
| nssv14385083 | deletion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
| nssv14389763 | deletion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
| nssv14392367 | deletion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14374317 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14375423 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14379732 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14380451 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14381367 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14383110 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14385083 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14389763 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14392367 | Submitted genomic | NC_000017.11:g.(40 088593_40089609)_( 40092192_40093208) del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,089,101 (-508, +508) | 40,092,700 (-508, +508) | ||
| nssv14374317 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14375423 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14379732 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14380451 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14381367 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14383110 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14385083 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14389763 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |
| nssv14392367 | Remapped | Perfect | NC_000017.10:g.(38 244846_38245862)_( 38248445_38249461) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,245,354 (-508, +508) | 38,248,953 (-508, +508) |