A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271957



Internal ID22266436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:158123889..158148207hg38UCSC Ensembl
Outerchr3:157841678..157865996hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220726
Supporting Variants
SamplesNA19238
Known GenesRSRC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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