A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925493



Internal ID17740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151571812..153829571hg38UCSC Ensembl
chr2:152428326..154686084hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg382257760
hg192257759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448351
Supporting Variants
Samples
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, NEB, PRPF40A, RPRM, STAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925493
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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