A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999335



Internal ID18812185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121381436..121689919hg38UCSC Ensembl
Innerchr3:121100283..121408766hg19UCSC Ensembl
Innerchr3:122582973..122891456hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38308484
hg19308484
hg18308484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735287
Samples
Known GenesARGFX, FBXO40, GOLGB1, HCLS1, POLQ, STXBP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999335
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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