nsv4816177
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,803
- 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: 128 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4816177 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 42,195,148 (-2, +44) | 42,205,950 (-42, +3) |
nsv4816177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 42,162,886 (-2, +44) | 42,173,688 (-42, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16330511 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16330511 | Remapped | Perfect | NC_000006.12:g.(42 195146_42195192)_( 42205908_42205953) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 42,195,148 (-2, +44) | 42,205,950 (-42, +3) |
nssv16330511 | Submitted genomic | NC_000006.11:g.(42 162884_42162930)_( 42173646_42173691) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 42,162,886 (-2, +44) | 42,173,688 (-42, +3) |
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) |
---|---|---|---|
nssv16330511 | <0.001 | 1 | 16834 |