A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280191



Internal ID22270602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148326780..148331938hg38UCSC Ensembl
Outerchr7:148023872..148029030hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg387696
hg197696
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213228
Supporting Variants
SamplesNA19239
Known GenesCNTNAP2, MIR548T
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280191
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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