A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530200



Internal ID21854556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28939095..28939095hg38UCSC Ensembl
chr2:29161961..29161961hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050703
Supporting Variants
Samples
Known GenesWDR43
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530200
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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