A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040388



Internal ID18782919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30628409..30792128hg38UCSC Ensembl
Innerchr15:30920612..31084331hg19UCSC Ensembl
Innerchr15:28707904..28871623hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38163720
hg19163720
hg18163720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2530n100
Supporting Variantsnssv3547635
Samples
Known GenesARHGAP11B, LOC100288637
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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