nsv4909449
- 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:3,357
- 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: 120 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4909449 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 136,004,773 (-1, +73) | 136,008,129 (-56, +2) | ||
nsv4909449 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 136,762,343 (-1, +73) | 136,765,699 (-56, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16438712 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16438712 | Submitted genomic | NC_000002.12:g.(13 6004772_136004846) _(136008073_136008 131)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 136,004,773 (-1, +73) | 136,008,129 (-56, +2) | ||
nssv16438712 | Remapped | Perfect | NC_000002.11:g.(13 6762342_136762416) _(136765643_136765 701)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 136,762,343 (-1, +73) | 136,765,699 (-56, +2) |
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) |
---|---|---|---|
nssv16438712 | <0.001 | 1 | 29246 |