A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306683



Internal ID22188271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64695200..64696559hg38UCSC Ensembl
chr3:64680876..64682235hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202505
Supporting Variants
SamplesHG00731
Known GenesADAMTS9-AS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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