A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3005437



Internal ID17298389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92488552..92488701hg38UCSC Ensembl
Outerchr14:92954896..92955045hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958766
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC24A4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3005437
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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