A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146831



Internal ID19202964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21315387..21351188hg38UCSC Ensembl
Outerchr17:21218699..21254500hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3835802
hg1935802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998192
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146831
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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