A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996476



Internal ID18841661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10432900..10437001hg38UCSC Ensembl
Outerchr12:10585499..10589600hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384102
hg194102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147689
Supporting Variants
SamplesKWB1
Known GenesKLRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996476
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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