nsv5030619
- 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:676,026
- 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: 4039 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4014 SVs from 96 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5030619 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 49,877,724 (-1) | 50,553,749 (-1, +1) | ||
nsv5030619 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 50,271,372 (-1) | 50,992,178 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16592907 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16592907 | Submitted genomic | NC_000022.11:g.(49 877723_?)_(5055374 8_50553750)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 49,877,724 (-1) | 50,553,749 (-1, +1) | ||
nssv16592907 | Remapped | Pass | NC_000022.10:g.(50 271371_?)_(5099217 7_50992179)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 50,271,372 (-1) | 50,992,178 (-1, +1) |
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) |
---|---|---|---|
nssv16592907 | <0.001 | 1 | 29246 |