nsv4435470
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:101,000
- 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: 1041 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4435470 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 419,211 | 520,210 |
| nsv4435470 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 2,184,001 | 2,285,000 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15752485 | Remapped | Perfect | NT_187576.1:g.4192 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 419,211 | 520,210 |
| nssv15752749 | Remapped | Perfect | NT_187576.1:g.4192 11_520210dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 419,211 | 520,210 |
| nssv15752485 | Submitted genomic | NC_000008.10:g.218 4001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,184,001 | 2,285,000 | ||
| nssv15752749 | Submitted genomic | NC_000008.10:g.218 4001_2285000dup | GRCh37.p13 | NC_000008.10 | Chr8 | 2,184,001 | 2,285,000 |