A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950635



Internal ID17299509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2208187..2212386hg38UCSC Ensembl
Outerchr5:2208301..2212500hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997692
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950635
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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