A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152192



Internal ID19202176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:53398687..53403888hg38UCSC Ensembl
Outerchr16:53432599..53437800hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996795
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152192
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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