A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011031



Internal ID18753564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12850112hg38UCSC Ensembl
Innerchr1:12852748..12909965hg19UCSC Ensembl
Innerchr1:12775335..12832552hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3857514
hg1957218
hg1857218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n100
Supporting Variantsnssv3471035
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011031
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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