A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196595



Internal ID22346576
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4767n152
Supporting Variantsnssv14265446
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196595
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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