A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226714



Internal ID22369426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74822393..74849936hg38UCSC Ensembl
Outerchr7:74236921..74266256hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381586
hg191586
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279280, nssv14279286, nssv14279285, nssv14279283, nssv14279284, nssv14279287, nssv14279281, nssv14279282
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesGTF2IRD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226714
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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