A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950021



Internal ID17298895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185563513..185570012hg38UCSC Ensembl
Outerchr3:185281301..185287800hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996568
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950021
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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