nsv4832920
- 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:48,913
- 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: 307 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 61 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4832920 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 103,329,882 (-3, +1) | 103,378,794 (-2, +3) |
nsv4832920 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 105,089,639 (-3, +1) | 105,138,551 (-2, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16383889 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16383889 | Remapped | Perfect | NC_000010.11:g.(10 3329879_103329883) _(103378792_103378 797)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 103,329,882 (-3, +1) | 103,378,794 (-2, +3) |
nssv16383889 | Submitted genomic | NC_000010.10:g.(10 5089636_105089640) _(105138549_105138 554)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 105,089,639 (-3, +1) | 105,138,551 (-2, +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) |
---|---|---|---|
nssv16383889 | <0.001 | 1 | 16834 |