A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192800



Internal ID22343334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168166185..168209997hg38UCSC Ensembl
Outerchr4:169087336..169131148hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3843813
hg1943813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273751, nssv14273752, nssv14273750, nssv14273749
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesANXA10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192800
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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