nsv4435473
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:90,000
- Publication(s):Deng 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: 998 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1039 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4435473 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nsv4435473 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15746284 | duplication | NB09 | Sequencing | Sequence alignment | 582 |
| nssv15746410 | duplication | SMI018 | Sequencing | Sequence alignment | 551 |
| nssv15748019 | duplication | NB12 | Sequencing | Sequence alignment | 599 |
| nssv15748207 | duplication | NB11 | Sequencing | Sequence alignment | 596 |
| nssv15749618 | duplication | BTQ038 | Sequencing | Sequence alignment | 561 |
| nssv15752807 | duplication | NB07 | Sequencing | Sequence alignment | 571 |
| nssv15753288 | duplication | MDQ025 | Sequencing | Sequence alignment | 671 |
| nssv15754107 | duplication | SMI041 | Sequencing | Sequence alignment | 593 |
| nssv15754606 | duplication | NB10 | Sequencing | Sequence alignment | 582 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15746284 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15746410 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15748019 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15748207 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15749618 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15752807 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15753288 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15754107 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15754606 | Remapped | Perfect | NT_187576.1:g.4302 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,211 | 520,210 |
| nssv15746284 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15746410 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15748019 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15748207 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15749618 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15752807 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15753288 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15754107 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 | ||
| nssv15754606 | Submitted genomic | NC_000008.10:g.219 5001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,195,001 | 2,285,000 |