A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279521



Internal ID22134819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44567627..44568926hg38UCSC Ensembl
Outerchr7:44607226..44608525hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216760
Supporting Variants
SamplesHG00513
Known GenesDDX56
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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