A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194760



Internal ID22345033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56121141..56136986hg38UCSC Ensembl
Outerchr5:55416968..55432813hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3815846
hg1915846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273598, nssv14273600, nssv14273599
SamplesHG00731, HG00733, HG00513
Known GenesANKRD55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194760
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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