nsv4848695
- 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:15,865
- 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: 161 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 161 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4848695 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 5,583,815 (-75, +25) | 5,599,679 (-25, +25) |
nsv4848695 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 5,605,045 (-75, +25) | 5,620,909 (-25, +25) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16384973 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16384973 | Remapped | Perfect | NC_000011.10:g.(55 83740_5583840)_(55 99654_5599704)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,583,815 (-75, +25) | 5,599,679 (-25, +25) |
nssv16384973 | Submitted genomic | NC_000011.9:g.(560 4970_5605070)_(562 0884_5620934)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 5,605,045 (-75, +25) | 5,620,909 (-25, +25) |
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) |
---|---|---|---|
nssv16384973 | <0.001 | 2 | 16834 |