A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997409



Internal ID17290361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20760370..20765169hg38UCSC Ensembl
Outerchr6:20760601..20765400hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950137
Supporting Variants
SamplesBILGI_BIOE
Known GenesCDKAL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997409
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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