A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219380



Internal ID22364417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148400323..148415392hg38UCSC Ensembl
Outerchr7:148097415..148112484hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278618, nssv14278619, nssv14278617
SamplesNA19238, HG00731, HG00513
Known GenesCNTNAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219380
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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