A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950430



Internal ID17299304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154031641..154044740hg38UCSC Ensembl
Outerchr5:153411201..153424300hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3813100
hg1913100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997863
SamplesBILGI_BIOE
Known GenesFAM114A2, MFAP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950430
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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