nsv4847858
- 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:411,897
- 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: 1495 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1491 SVs from 102 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4847858 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,577,616 (-80, +1) | 67,989,512 (-1, +105) |
nsv4847858 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,345,087 (-80, +1) | 67,756,983 (-1, +105) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16386443 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16386443 | Remapped | Perfect | NC_000011.10:g.(67 577536_67577617)_( 67989511_67989617) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,577,616 (-80, +1) | 67,989,512 (-1, +105) |
nssv16386443 | Submitted genomic | NC_000011.9:g.(673 45007_67345088)_(6 7756982_67757088)d up | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,345,087 (-80, +1) | 67,756,983 (-1, +105) |
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) |
---|---|---|---|
nssv16386443 | <0.001 | 1 | 16834 |