nsv4846156
- 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:528
- 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: 172 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4846156 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,825,123 (-2, +50) | 7,825,650 (-14, +3) |
| nsv4846156 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 45,991 (-2, +50) | 46,518 (-14, +3) |
| nsv4846156 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 56,113 (-2, +50) | 56,640 (-14, +3) |
| nsv4846156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,846,670 (-2, +50) | 7,847,197 (-14, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16356127 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16356127 | Remapped | Perfect | NT_187583.1:g.(459 89_46041)_(46504_4 6521)del | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 45,991 (-2, +50) | 46,518 (-14, +3) |
| nssv16356127 | Remapped | Perfect | NW_011332695.1:g.( 56111_56163)_(5662 6_56643)del | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 56,113 (-2, +50) | 56,640 (-14, +3) |
| nssv16356127 | Remapped | Perfect | NC_000011.10:g.(78 25121_7825173)_(78 25636_7825653)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,825,123 (-2, +50) | 7,825,650 (-14, +3) |
| nssv16356127 | Submitted genomic | NC_000011.9:g.(784 6668_7846720)_(784 7183_7847200)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 7,846,670 (-2, +50) | 7,847,197 (-14, +3) |
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) |
|---|---|---|---|
| nssv16356127 | 0.033 | 551 | 16834 |