A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271844



Internal ID22295403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:64546906..64551442hg38UCSC Ensembl
Outerchr3:64532582..64537118hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221961
Supporting Variants
SamplesNA19240
Known GenesADAMTS9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271844
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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