A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272779



Internal ID22152589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155196633..155214572hg38UCSC Ensembl
Outerchr4:156117785..156135724hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3817940
hg1917940
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199351
Supporting Variants
SamplesHG00514
Known GenesNPY2R
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272779
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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