A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260656



Internal ID22223663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41629109..41637071hg38UCSC Ensembl
Outerchr17:39785361..39793323hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248693
Supporting Variants
SamplesHG00733
Known GenesKRT42P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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