A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996687



Internal ID17289639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:26349079..26359378hg38UCSC Ensembl
Outerchr4:26350701..26361000hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950561
Supporting Variants
SamplesBILGI_BIOE
Known GenesRBPJ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996687
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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