nsv4842052
- 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:658
- 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: 155 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4842052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 962,560 (+3) | 963,217 (+1) |
| nsv4842052 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 25,416 (+3) | 26,073 (+1) |
| nsv4842052 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 25,303 (+3) | 25,960 (+1) |
| nsv4842052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 962,560 (+3) | 963,217 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16356800 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16356800 | Remapped | Perfect | NT_187681.1:g.(?_2 5419)_(?_26074)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 25,416 (+3) | 26,073 (+1) |
| nssv16356800 | Remapped | Perfect | NT_187656.1:g.(?_2 5306)_(?_25961)del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 25,303 (+3) | 25,960 (+1) |
| nssv16356800 | Remapped | Perfect | NC_000011.10:g.(?_ 962563)_(?_963218) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 962,560 (+3) | 963,217 (+1) |
| nssv16356800 | Submitted genomic | NC_000011.9:g.(?_9 62563)_(?_963218)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 962,560 (+3) | 963,217 (+1) |
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) |
|---|---|---|---|
| nssv16356800 | <0.001 | 1 | 16834 |