nsv4906630
- Organism: Homo sapiens
- Study:nstd200 (Abel 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:5,226
- Publication(s):Abel 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: 212 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4906630 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 182,807,907 (-48, +48) | 182,813,132 (-76, +69) | ||
nsv4906630 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 182,777,042 (-48, +48) | 182,782,267 (-76, +69) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16424068 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16424068 | Submitted genomic | NC_000001.11:g.(18 2807859_182807955) _(182813056_182813 201)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 182,807,907 (-48, +48) | 182,813,132 (-76, +69) | ||
nssv16424068 | Remapped | Perfect | NC_000001.10:g.(18 2776994_182777090) _(182782191_182782 336)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 182,777,042 (-48, +48) | 182,782,267 (-76, +69) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16424068 | 0.003 | 87 | 29246 |