A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003518



Internal ID18746049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19769795..19890367hg38UCSC Ensembl
Innerchr1:20096288..20216860hg19UCSC Ensembl
Innerchr1:19968875..20089447hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38120573
hg19120573
hg18120573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700850
Samples
Known GenesOTUD3, RNF186, TMCO4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003518
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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