A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148208



Internal ID19196313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34083580..34088681hg38UCSC Ensembl
Outerchr17:32410599..32415700hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001719
SamplesKWB1
Known GenesASIC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148208
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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