A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996568



Internal ID17289520
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 StatusS
Merged Variantsnsv950021
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996568
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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