nsv4869121
- 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:523,703
- 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: 4519 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 1391 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 4546 SVs from 116 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4869121 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,370,082 (-2, +81) | 22,893,784 (-156) |
| nsv4869121 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 1 (-0, +81) | 259,914 (-156) |
| nsv4869121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,724,450 (-2, +81) | 23,235,964 (-156) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16377223 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16377223 | Remapped | Pass | NT_187629.1:g.(1_8 2)_(259758_?)del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 1 (-0, +81) | 259,914 (-156) |
| nssv16377223 | Remapped | Good | NC_000022.11:g.(22 370080_22370163)_( 22893628_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,370,082 (-2, +81) | 22,893,784 (-156) |
| nssv16377223 | Submitted genomic | NC_000022.10:g.(22 724448_22724531)_( 23235808_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,724,450 (-2, +81) | 23,235,964 (-156) |
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) |
|---|---|---|---|
| nssv16377223 | <0.001 | 8 | 16832 |