A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273755



Internal ID22138135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69909372..69960748hg38UCSC Ensembl
Outerchr1:70375055..70426431hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385328
hg195328
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219876
Supporting Variants
SamplesHG00513
Known GenesLRRC7, PIN1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273755
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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