nsv4864414
- 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:28,256
- 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: 602 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4864414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 374,111 | 402,366 |
| nsv4864414 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 272 | 28,527 |
| nsv4864414 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 347,165 | 375,420 |
| nsv4864414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 223,902 | 252,157 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16389142 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16389142 | Remapped | Perfect | NT_187662.1:g.272_ 28527dup | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 272 | 28,527 |
| nssv16389142 | Remapped | Perfect | NW_003315952.3:g.3 47165_375420dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 347,165 | 375,420 |
| nssv16389142 | Remapped | Perfect | NC_000017.11:g.374 111_402366dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 374,111 | 402,366 |
| nssv16389142 | Submitted genomic | NC_000017.10:g.223 902_252157dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 223,902 | 252,157 |
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) |
|---|---|---|---|
| nssv16389142 | <0.001 | 1 | 16834 |