A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950691



Internal ID17299565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:50404567..50450066hg38UCSC Ensembl
Outerchr5:49700401..49745900hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3845500
hg1945500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997743
SamplesBILGI_BIOE
Known GenesEMB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950691
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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