nsv4844352
- 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:315
- 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: 133 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4844352 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000011.10 | Chr11 | 1,025,666 | 1,025,980 |
| nsv4844352 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 100,059 | 100,373 |
| nsv4844352 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 95,231 | 95,545 |
| nsv4844352 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 13,123 | 13,437 |
| nsv4844352 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,025,666 | 1,025,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16384935 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16384935 | Remapped | Perfect | NT_187681.1:g.1000 59_100373dup | GRCh38.p12 | First Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 100,059 | 100,373 |
| nssv16384935 | Remapped | Perfect | NT_187656.1:g.9523 1_95545dup | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 95,231 | 95,545 |
| nssv16384935 | Remapped | Perfect | NW_015148966.1:g.1 3123_13437dup | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 13,123 | 13,437 |
| nssv16384935 | Remapped | Perfect | NC_000011.10:g.102 5666_1025980dup | GRCh38.p12 | Second Pass | NC_000011.10 | Chr11 | 1,025,666 | 1,025,980 |
| nssv16384935 | Submitted genomic | NC_000011.9:g.1025 666_1025980dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,025,666 | 1,025,980 |
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) |
|---|---|---|---|
| nssv16384935 | <0.001 | 1 | 16834 |