A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152314



Internal ID19202269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:83797580..83803581hg38UCSC Ensembl
Outerchr6:84507299..84513300hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996918
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152314
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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