A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202579



Internal ID22351724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23341392..23379002hg38UCSC Ensembl
Outerchr4:23343015..23380625hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3837611
hg1937611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275013, nssv14275014
SamplesHG00512, HG00731
Known GenesMIR548AJ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202579
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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