A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279663



Internal ID22278007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75040022..75094199hg38UCSC Ensembl
Outerchr7:74454126..74509990hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219312
Supporting Variants
SamplesNA19239
Known GenesGTF2IRD2, GTF2IRD2B, WBSCR16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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