A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921877



Internal ID15344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179684007..179702176hg38UCSC Ensembl
chr2:180548734..180566903hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3818170
hg1918170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453142
Supporting Variants
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921877
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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