A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996758



Internal ID17289710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:103135844..103142443hg38UCSC Ensembl
Outerchr4:104057001..104063600hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950371
Supporting Variants
SamplesBILGI_BIOE
Known GenesCENPE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996758
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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