nsv4984165
- 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:8,273
- 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: 132 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4984165 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 5,601,643 (-39, +3) | 5,609,915 (-2, +58) | ||
nsv4984165 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 5,622,873 (-39, +3) | 5,631,145 (-2, +58) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16534079 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16534079 | Submitted genomic | NC_000011.10:g.(56 01604_5601646)_(56 09913_5609973)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 5,601,643 (-39, +3) | 5,609,915 (-2, +58) | ||
nssv16534079 | Remapped | Perfect | NC_000011.9:g.(562 2834_5622876)_(563 1143_5631203)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,622,873 (-39, +3) | 5,631,145 (-2, +58) |
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) |
---|---|---|---|
nssv16534079 | <0.001 | 1 | 29246 |