A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925778



Internal ID17934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230720610..230735373hg38UCSC Ensembl
chr2:231585325..231600088hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3814764
hg1914764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435638
Supporting Variants
Samples
Known GenesCAB39
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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