A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227697



Internal ID22370111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113343372..113384032hg38UCSC Ensembl
Outerchr13:113997687..114038347hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3840661
hg1940661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256956, nssv14256957
SamplesHG00513, HG00514
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227697
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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