nsv4773199
- 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:761
- 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: 121 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4773199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 40,245,496 (-14, +14) | 40,246,256 (-18, +10) |
nsv4773199 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 40,711,168 (-14, +14) | 40,711,928 (-18, +10) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16311920 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16311920 | Remapped | Perfect | NC_000001.11:g.(40 245482_40245510)_( 40246238_40246266) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 40,245,496 (-14, +14) | 40,246,256 (-18, +10) |
nssv16311920 | Submitted genomic | NC_000001.10:g.(40 711154_40711182)_( 40711910_40711938) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 40,711,168 (-14, +14) | 40,711,928 (-18, +10) |
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) |
---|---|---|---|
nssv16311920 | <0.001 | 5 | 16834 |