A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001330



Internal ID19191479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129037554..129041655hg38UCSC Ensembl
Outerchr12:129522099..129526200hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384102
hg194102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153413
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001330
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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