A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006524



Internal ID18749055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12832443hg38UCSC Ensembl
Innerchr1:12852748..12892297hg19UCSC Ensembl
Innerchr1:12775335..12814884hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3839845
hg1939550
hg1839550
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3472344, nssv3697978, nssv3464724, nssv3481657, nssv3465603, nssv3471824, nssv3466020
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006524
Frequency
Sample Size29084
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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