A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268485



Internal ID22275375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121393155..121472278hg38UCSC Ensembl
Outerchr1:121135016..121214132hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38142204
hg19142204
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228812
Supporting Variants
SamplesNA19239
Known GenesSRGAP2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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