A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197302



Internal ID22347201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82103794..82143388hg38UCSC Ensembl
Outerchr5:81399613..81439207hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3839595
hg1939595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273308
SamplesNA19239
Known GenesATG10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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