nsv5004489
- 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:1,133
- 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: 154 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5004489 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 36,671,626 (-10, +10) | 36,672,758 (-12, +12) | ||
nsv5004489 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 37,245,763 (-10, +10) | 37,246,895 (-12, +12) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16553189 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16553189 | Submitted genomic | NC_000013.11:g.(36 671616_36671636)_( 36672746_36672770) dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 36,671,626 (-10, +10) | 36,672,758 (-12, +12) | ||
nssv16553189 | Remapped | Perfect | NC_000013.10:g.(37 245753_37245773)_( 37246883_37246907) dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 37,245,763 (-10, +10) | 37,246,895 (-12, +12) |
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) |
---|---|---|---|
nssv16553189 | <0.001 | 7 | 29246 |