nsv4825082
- 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:2,318
- 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: 735 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 733 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4825082 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,700,900 (-100, +2) | 76,703,217 (-1, +107) |
| nsv4825082 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 187,735 (-100, +2) | 190,052 (-1, +107) |
| nsv4825082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,330,217 (-100, +2) | 76,332,534 (-1, +107) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16396139 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16396139 | Remapped | Perfect | NT_187561.1:g.(187 635_187737)_(19005 1_190159)dup | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 187,735 (-100, +2) | 190,052 (-1, +107) |
| nssv16396139 | Remapped | Perfect | NC_000007.14:g.(76 700800_76700902)_( 76703216_76703324) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,700,900 (-100, +2) | 76,703,217 (-1, +107) |
| nssv16396139 | Submitted genomic | NC_000007.13:g.(76 330117_76330219)_( 76332533_76332641) dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,330,217 (-100, +2) | 76,332,534 (-1, +107) |
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) |
|---|---|---|---|
| nssv16396139 | <0.001 | 1 | 16834 |