A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951898



Internal ID17300772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:76879066..76883865hg38UCSC Ensembl
Outerchr13:77453201..77458000hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998237
SamplesBILGI_BIOE
Known GenesKCTD12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951898
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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