A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265446



Internal ID22330161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118299162..118316865hg38UCSC Ensembl
Outerchr2:119056738..119074441hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3817704
hg1917704
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196595
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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