A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271691



Internal ID22117277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17689105..17696433hg38UCSC Ensembl
Outerchr1:18015600..18022928hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214707
Supporting Variants
SamplesHG00512
Known GenesARHGEF10L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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