A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142216



Internal ID18918983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37049321..37070661hg38UCSC Ensembl
Outerchr17:35406619..35427953hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3821341
hg1921335
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993725
SamplesKWS2
Known GenesAATF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142216
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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