A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996260



Internal ID18847088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33848894..33849895hg38UCSC Ensembl
Outerchr5:33848999..33850000hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150783
Supporting Variants
SamplesKWB1
Known GenesADAMTS12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996260
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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