A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950030



Internal ID17298904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187914313..187920512hg38UCSC Ensembl
Outerchr3:187632101..187638300hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996577
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950030
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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