A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276581



Internal ID22253316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56323621..56344736hg38UCSC Ensembl
Outerchr6:56188419..56209534hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212950
Supporting Variants
SamplesNA19238
Known GenesRNU6-71P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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