A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249800



Internal ID22377375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:74812572..74823058hg38UCSC Ensembl
Outerchr10:76572330..76582816hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg382116
hg192116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252645, nssv14252649, nssv14252650, nssv14252653, nssv14252651, nssv14252648, nssv14252646, nssv14252647, nssv14252652
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)nsv3249800
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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