nsv5902499
- 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:640
- 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: 131 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5902499 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 128,903,126 | 128,903,765 | ||
nsv5902499 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 129,224,271 | 129,224,910 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17426216 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17426216 | Submitted genomic | NC_000006.12:g.128 903126_128903765de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 128,903,126 | 128,903,765 | ||
nssv17426216 | Remapped | Perfect | NC_000006.11:g.129 224271_129224910de l | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 129,224,271 | 129,224,910 |