A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306673



Internal ID22125151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64118845..64119675hg38UCSC Ensembl
chr3:64104521..64105351hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205557
Supporting Variants
SamplesHG00512
Known GenesPRICKLE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306673
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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