A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216535



Internal ID22362502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75270293..75281294hg38UCSC Ensembl
Outerchr7:74685945..74696117hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811002
hg1910173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278755, nssv14278754
SamplesNA19239, HG00513
Known GenesGTF2IP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216535
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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