A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011540



Internal ID18754074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12601623..12832443hg38UCSC Ensembl
Innerchr1:12661635..12892297hg19UCSC Ensembl
Innerchr1:12584222..12814884hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38230821
hg19230663
hg18230663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3472793
Samples
Known GenesAADACL3, AADACL4, C1orf158, DHRS3, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011540
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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