A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261102



Internal ID22184540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7810659..7844218hg38UCSC Ensembl
Outerchr17:7713977..7747536hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247052
Supporting Variants
SamplesHG00731
Known GenesDNAH2, KDM6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261102
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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