A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219046



Internal ID22364190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148362473..148391650hg38UCSC Ensembl
Outerchr7:148059565..148088742hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3829178
hg1929178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278154, nssv14278152, nssv14278151, nssv14278153
SamplesHG00512, NA19238, HG00731, HG00513
Known GenesCNTNAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219046
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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