A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266530



Internal ID22277595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241160724..241186497hg38UCSC Ensembl
Outerchr2:242100139..242125912hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211917
Supporting Variants
SamplesNA19239
Known GenesPPP1R7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266530
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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