A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010514



Internal ID18753045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138646798..139018846hg38UCSC Ensembl
Innerchr3:138365640..138737688hg19UCSC Ensembl
Innerchr3:139848330..140220378hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38372049
hg19372049
hg18372049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4908n100
Supporting Variantsnssv3608333
Samples
Known GenesC3orf72, FOXL2, PIK3CB, PRR23A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010514
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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