A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266748



Internal ID22261937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241113720..241126946hg38UCSC Ensembl
Outerchr2:242053135..242066361hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382667
hg192667
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229958
Supporting Variants
SamplesNA19238
Known GenesPASK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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