nsv4861339
- 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:24,404
- 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: 1266 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1034 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1080 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1134 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4861339 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,220,154 (-1, +1) | 54,244,557 (-1) |
| nsv4861339 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,138 (-1, +1) | 219,512 (-1) |
| nsv4861339 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,138 (-1, +1) | 219,537 (-1) |
| nsv4861339 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,142 (-1, +1) | 219,511 (-1) |
| nsv4861339 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,954 (-1, +1) | 219,293 (-1) |
| nsv4861339 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,724,024 (-1, +1) | 54,748,398 (-1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16376756 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16376756 | Remapped | Perfect | NT_187693.1:g.(195 137_195139)_(21951 1_?)del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,138 (-1, +1) | 219,512 (-1) |
| nssv16376756 | Remapped | Good | NW_003571061.2:g.( 195137_195139)_(21 9536_?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,138 (-1, +1) | 219,537 (-1) |
| nssv16376756 | Remapped | Good | NW_003571060.1:g.( 195141_195143)_(21 9510_?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,142 (-1, +1) | 219,511 (-1) |
| nssv16376756 | Remapped | Good | NW_003571054.1:g.( 194953_194955)_(21 9292_?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,954 (-1, +1) | 219,293 (-1) |
| nssv16376756 | Remapped | Good | NC_000019.10:g.(54 220153_54220155)_( 54244556_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,154 (-1, +1) | 54,244,557 (-1) |
| nssv16376756 | Submitted genomic | NC_000019.9:g.(547 24023_54724025)_(5 4748397_?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,024 (-1, +1) | 54,748,398 (-1) |
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) |
|---|---|---|---|
| nssv16376756 | <0.001 | 1 | 16834 |