A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214782



Internal ID22361329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13675509..13679203hg38UCSC Ensembl
Outerchr10:13717509..13721203hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383695
hg193695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277575, nssv14277576
SamplesNA19239, NA19240
Known GenesFRMD4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214782
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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