A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274979



Internal ID22262623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56011060..56102302hg38UCSC Ensembl
Outerchr6:55875858..55967100hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3891243
hg1991243
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192505
Supporting Variants
SamplesNA19238
Known GenesCOL21A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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