A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253426



Internal ID22130700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:23856009..23885543hg38UCSC Ensembl
Outerchr10:24144938..24174472hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg385865
hg195865
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240212
Supporting Variants
SamplesHG00513
Known GenesKIAA1217
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253426
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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