A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279311



Internal ID22258774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:96746344..96775441hg38UCSC Ensembl
Outerchr7:96375656..96404753hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385936
hg195936
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215224
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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