A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223392



Internal ID22367176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151430054..151443138hg38UCSC Ensembl
Outerchr3:151147842..151160926hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386046
hg196046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271590, nssv14271587, nssv14271584, nssv14271592, nssv14271588, nssv14271586, nssv14271591, nssv14271585, nssv14271589
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesIGSF10, MED12L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223392
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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