A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215945



Internal ID22362104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31950054..31968065hg38UCSC Ensembl
Outerchr13:32524191..32542202hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3818012
hg1918012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257049, nssv14257050, nssv14257048, nssv14257051
SamplesNA19238, NA19240, HG00513, HG00514
Known GenesEEF1DP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215945
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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