A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014153



Internal ID18756686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12851243hg38UCSC Ensembl
Innerchr1:12852748..12911096hg19UCSC Ensembl
Innerchr1:12775335..12833683hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3858645
hg1958349
hg1858349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n100
Supporting Variantsnssv3697981, nssv3697982, nssv3473439, nssv3697980, nssv3697983
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)nsv1014153
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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