A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213963



Internal ID22360748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94486696..94609591hg38UCSC Ensembl
Outerchr7:94116008..94238903hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38122896
hg19122896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277572, nssv14277573
SamplesNA19238, HG00731
Known GenesCASD1, SGCE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213963
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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