A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052386



Internal ID18794917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54316230..54513716hg38UCSC Ensembl
Innerchr10:56075990..56273476hg19UCSC Ensembl
Innerchr10:55745996..55943482hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38197487
hg19197487
hg18197487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519211
Samples
Known GenesPCDH15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052386
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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