A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147003



Internal ID18855399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39498921..39499205hg38UCSC Ensembl
Outerchr17:37655174..37655458hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998365
SamplesKWB1
Known GenesCDK12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147003
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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