A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232527



Internal ID22372528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:101838866..101861662hg38UCSC Ensembl
Outerchr10:103598623..103621419hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252793, nssv14252790, nssv14252792, nssv14252731, nssv14252786, nssv14252789, nssv14252791, nssv14252788, nssv14252787
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC10orf76, KCNIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232527
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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