nsv4867959
- 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:1,361
- 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: 505 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4867959 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,065,927 (-3, +40) | 79,067,287 (-56) |
| nsv4867959 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 134,640 (-3, +40) | 136,000 (-56) |
| nsv4867959 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 136,477 (-3, +40) | 137,837 (-56) |
| nsv4867959 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 76,825,927 (-3, +40) | 76,827,287 (-56) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16374169 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16374169 | Remapped | Perfect | NT_187666.1:g.(134 637_134680)_(13594 4_?)del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 134,640 (-3, +40) | 136,000 (-56) |
| nssv16374169 | Remapped | Perfect | NW_003315961.1:g.( 136474_136517)_(13 7781_?)del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 136,477 (-3, +40) | 137,837 (-56) |
| nssv16374169 | Remapped | Perfect | NC_000018.10:g.(79 065924_79065967)_( 79067231_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,065,927 (-3, +40) | 79,067,287 (-56) |
| nssv16374169 | Submitted genomic | NC_000018.9:g.(768 25924_76825967)_(7 6827231_?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,825,927 (-3, +40) | 76,827,287 (-56) |
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) |
|---|---|---|---|
| nssv16374169 | <0.001 | 1 | 16834 |