A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253737



Internal ID22199584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59878820..59885167hg38UCSC Ensembl
Outerchr10:61638578..61644925hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233307
Supporting Variants
SamplesHG00732
Known GenesCCDC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253737
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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