nsv4864930
- 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:2,915
- 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: 105 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4864930 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 11,381,930 (-1, +1) | 11,384,844 (-1, +1) |
nsv4864930 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,492,606 (-1, +1) | 11,495,520 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16387309 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16387309 | Remapped | Perfect | NC_000019.10:g.(11 381929_11381931)_( 11384843_11384845) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,381,930 (-1, +1) | 11,384,844 (-1, +1) |
nssv16387309 | Submitted genomic | NC_000019.9:g.(114 92605_11492607)_(1 1495519_11495521)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,492,606 (-1, +1) | 11,495,520 (-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) |
---|---|---|---|
nssv16387309 | <0.001 | 2 | 16834 |