A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117178



Internal ID18919794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9227244..9227325hg38UCSC Ensembl
Outerchr17:9130561..9130642hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979360
SamplesKWS2
Known GenesNTN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117178
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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