nsv6017590
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,461
- Publication(s):Wu et al. 2021
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: 249 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 52 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6017590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 100,390,257 | 100,392,717 | ||
nsv6017590 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 99,725,961 | 99,728,421 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17544319 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17544319 | Submitted genomic | NC_000005.10:g.100 390257_100392717du p | GRCh38 (hg38) | NC_000005.10 | Chr5 | 100,390,257 | 100,392,717 | ||
nssv17544319 | Remapped | Perfect | NC_000005.9:g.9972 5961_99728421dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,725,961 | 99,728,421 |