A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253736



Internal ID22272167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59876052..59888952hg38UCSC Ensembl
Outerchr10:61635810..61648710hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242022
Supporting Variants
SamplesNA19239
Known GenesCCDC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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