A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283003



Internal ID22263250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:31674313..31688755hg38UCSC Ensembl
Outerchr10:31963241..31977683hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246642
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283003
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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