nsv4824529
- 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:4,462
- 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: 122 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4824529 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 87,686,845 (-21, +21) | 87,691,306 (-30, +41) |
nsv4824529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 88,396,563 (-21, +21) | 88,401,024 (-30, +41) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16395290 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16395290 | Remapped | Perfect | NC_000006.12:g.(87 686824_87686866)_( 87691276_87691347) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 87,686,845 (-21, +21) | 87,691,306 (-30, +41) |
nssv16395290 | Submitted genomic | NC_000006.11:g.(88 396542_88396584)_( 88400994_88401065) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 88,396,563 (-21, +21) | 88,401,024 (-30, +41) |
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) |
---|---|---|---|
nssv16395290 | <0.001 | 2 | 16834 |