A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199633



Internal ID22349193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42607795..42631455hg38UCSC Ensembl
Outerchr5:42607897..42631557hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3823661
hg1923661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274883, nssv14274889, nssv14274886, nssv14274885, nssv14274884, nssv14274890, nssv14274888, nssv14274887
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGHR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199633
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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