A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038422



Internal ID18780953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17861685..18168520hg38UCSC Ensembl
Innerchr12:18014619..18321454hg19UCSC Ensembl
Innerchr12:17905886..18212721hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38306836
hg19306836
hg18306836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508527
Samples
Known GenesRERGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038422
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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