A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267427



Internal ID22203875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102471343..102478820hg38UCSC Ensembl
Outerchr2:103087803..103095279hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211880
Supporting Variants
SamplesHG00732
Known GenesSLC9A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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