nsv4769992
- 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:995
- 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: 140 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769992 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 3,494,747 (-26, +26) | 3,495,741 (-19, +19) |
| nsv4769992 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187522.1 | Chr2|NT_18 7522.1 | 104,217 (-26, +26) | 105,211 (-19, +19) |
| nsv4769992 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 3,498,518 (-26, +26) | 3,499,512 (-19, +19) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16298933 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16298933 | Remapped | Perfect | NT_187522.1:g.(104 191_104243)_(10519 2_105230)del | GRCh38.p12 | Second Pass | NT_187522.1 | Chr2|NT_18 7522.1 | 104,217 (-26, +26) | 105,211 (-19, +19) |
| nssv16298933 | Remapped | Perfect | NC_000002.12:g.(34 94721_3494773)_(34 95722_3495760)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 3,494,747 (-26, +26) | 3,495,741 (-19, +19) |
| nssv16298933 | Submitted genomic | NC_000002.11:g.(34 98492_3498544)_(34 99493_3499531)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 3,498,518 (-26, +26) | 3,499,512 (-19, +19) |
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) |
|---|---|---|---|
| nssv16298933 | <0.001 | 3 | 16834 |