A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132447



Internal ID19261055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15695786..15699886hg38UCSC Ensembl
Outerchr17:15599100..15603200hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987223
SamplesKWS1
Known GenesZNF286A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132447
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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