A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279385



Internal ID22120197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44178886..44185085hg38UCSC Ensembl
Outerchr6:44146623..44152822hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38806
hg19806
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222664
Supporting Variants
SamplesHG00512
Known GenesCAPN11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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