A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923483



Internal ID16423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190276671..190280595hg38UCSC Ensembl
chr2:191141397..191145321hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383925
hg193925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449015
Supporting Variants
Samples
Known GenesHIBCH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923483
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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