nsv5920300
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,791,268
- Publication(s):Almarri et al. 2020
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: 1998 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 13057 SVs from 130 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5920300 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 58,175,829 | 61,967,096 | ||
nsv5920300 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 33,056,641 | 46,455,165 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17435278 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17435278 | Submitted genomic | NC_000007.14:g.581 75829_61967096del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 58,175,829 | 61,967,096 | ||
nssv17435278 | Remapped | Pass | NC_000016.9:g.3305 6641_46455165del | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 33,056,641 | 46,455,165 |