A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211701



Internal ID22359176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31408914..31409055hg38UCSC Ensembl
chr14:31878120..31878261hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370171, nssv14370168, nssv14370172, nssv14370169, nssv14370170
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesHEATR5A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211701
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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