nsv5005080
- 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:784,490
- 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: 10642 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 5915 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3719 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5005080 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 106,081,854 (-110, +2) | 106,866,343 (-2, +94) | ||
| nsv5005080 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 106,817,885 (-110, +2) | 107,274,558 (-2, +94) |
| nsv5005080 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,008,127 (-110, +2) | 1,523,386 (-2, +94) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16555337 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16555337 | Submitted genomic | NC_000014.9:g.(106 081744_106081856)_ (106866341_1068664 37)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 106,081,854 (-110, +2) | 106,866,343 (-2, +94) | ||
| nssv16555337 | Remapped | Pass | NW_004166863.1:g.( 1008017_1008129)_( 1523384_1523480)du p | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,008,127 (-110, +2) | 1,523,386 (-2, +94) |
| nssv16555337 | Remapped | Pass | NC_000014.8:g.(106 817775_106817887)_ (107274556_1072746 52)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,817,885 (-110, +2) | 107,274,558 (-2, +94) |
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) |
|---|---|---|---|
| nssv16555337 | <0.001 | 2 | 29246 |