A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954492



Internal ID16956679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151315313..151363512hg38UCSC Ensembl
Outerchr3:151033101..151081300hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3848200
hg1948200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001482
SamplesBILGI_BIOE
Known GenesGPR87, MED12L, P2RY12, P2RY13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954492
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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