A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262243



Internal ID22222868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73347661..73411032hg38UCSC Ensembl
Outerchr17:71343800..71407171hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381326
hg191326
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233934
Supporting Variants
SamplesHG00733
Known GenesSDK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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