nsv5036777
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,592
- 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: 160 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5036777 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 29,717,711 (-6, +6) | 29,720,302 (-6, +6) | ||
nsv5036777 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,685,488 (-6, +6) | 29,688,079 (-6, +6) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16478544 | sva deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16478544 | Submitted genomic | NC_000006.12:g.(29 717705_29717717)_( 29720296_29720308) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,711 (-6, +6) | 29,720,302 (-6, +6) | ||
nssv16478544 | Remapped | Perfect | NC_000006.11:g.(29 685482_29685494)_( 29688073_29688085) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,488 (-6, +6) | 29,688,079 (-6, +6) |
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) |
---|---|---|---|
nssv16478544 | 0.89 | 26033 | 29246 |