A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259966



Internal ID22145313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10937776..10971543hg38UCSC Ensembl
Outerchr1:10997833..11031600hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217337
Supporting Variants
SamplesHG00514
Known GenesC1orf127
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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