A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001667



Internal ID19194209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:34690764..34703565hg38UCSC Ensembl
Outerchr12:34843699..34856500hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3812802
hg1912802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148156
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001667
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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