A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152691



Internal ID18848650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39481587..39481696hg38UCSC Ensembl
Outerchr17:37637840..37637949hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999872
SamplesKWB1
Known GenesCDK12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152691
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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