A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116009



Internal ID18931496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39498933..39499204hg38UCSC Ensembl
Outerchr17:37655186..37655457hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978571
SamplesKWS1
Known GenesCDK12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116009
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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