A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253047



Internal ID22269724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15602471..15607767hg38UCSC Ensembl
Outerchr10:15644470..15649766hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385843
hg195843
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231918
Supporting Variants
SamplesNA19239
Known GenesITGA8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253047
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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