nsv4901807
- 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:3,434
- 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: 113 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4901807 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 70,170,051 (-21, +21) | 70,173,484 (-16, +16) | ||
nsv4901807 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 70,397,183 (-21, +21) | 70,400,616 (-16, +16) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16431440 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16431440 | Submitted genomic | NC_000002.12:g.(70 170030_70170072)_( 70173468_70173500) del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 70,170,051 (-21, +21) | 70,173,484 (-16, +16) | ||
nssv16431440 | Remapped | Perfect | NC_000002.11:g.(70 397162_70397204)_( 70400600_70400632) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 70,397,183 (-21, +21) | 70,400,616 (-16, +16) |
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) |
---|---|---|---|
nssv16431440 | <0.001 | 3 | 29246 |