A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231742



Internal ID22372318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:65499795..65555865hg38UCSC Ensembl
Outerchr10:67259553..67315623hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg383718
hg193718
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252600, nssv14252595, nssv14252598, nssv14252601, nssv14252599, nssv14252597, nssv14252596, nssv14252593, nssv14252594
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231742
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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