A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227576



Internal ID22370027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148358954..148428255hg38UCSC Ensembl
Outerchr7:148056046..148125347hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3869302
hg1969302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278795, nssv14278796
SamplesNA19239, HG00732
Known GenesCNTNAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227576
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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