A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17533135



Internal ID21857491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148663853..148663853hg38UCSC Ensembl
chr2:149421422..149421422hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6049635
Supporting Variants
Samples
Known GenesEPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17533135
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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