nsv4593054
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:79,416
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: 357 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4593054 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,046,755 | 29,117,304 |
| nsv4593054 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 10,272 | 89,687 |
| nsv4593054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 29,046,862 | 29,117,411 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16106560 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16106560 | Remapped | Pass | NW_003571036.1:g.( ?_10272)_(89687_?) dup | GRCh38.p12 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 10,272 | 89,687 |
| nssv16106560 | Remapped | Perfect | NC_000005.10:g.(?_ 29046755)_(2911730 4_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,046,755 | 29,117,304 |
| nssv16106560 | Submitted genomic | NC_000005.9:g.(?_2 9046862)_(29117411 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 29,046,862 | 29,117,411 |
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) |
|---|---|---|---|
| nssv16106560 | <0.001 | 1 | 5919 |