A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761478



Internal ID22095975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004911..231004911hg38UCSC Ensembl
chr2:231869626..231869626hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4438164
Supporting Variants
Samples
Known GenesSPATA3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761478
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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