A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277576



Internal ID22302794
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214782
Supporting Variants
SamplesNA19240
Known GenesFRMD4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277576
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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