A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265088



Internal ID22315192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:171970201..171977243hg38UCSC Ensembl
Outerchr2:172826722..172842182hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388240
hg198240
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213884
Supporting Variants
SamplesNA19240
Known GenesHAT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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