A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000209



Internal ID19193435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53381915..53383516hg38UCSC Ensembl
Outerchr12:53775699..53777300hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147435
Supporting Variants
SamplesKWB1
Known GenesSP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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