A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262001



Internal ID22184756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81304792..81366262hg38UCSC Ensembl
Outerchr17:79278592..79340062hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382756
hg192756
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235654
Supporting Variants
SamplesHG00731
Known GenesLINC00482, TMEM105
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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