A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17535382



Internal ID21859737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55920704..55920704hg38UCSC Ensembl
chr2:56147839..56147839hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6051195
Supporting Variants
Samples
Known GenesEFEMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17535382
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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