A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012081



Internal ID18754617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12954384hg38UCSC Ensembl
Innerchr1:12845851..13015495hg19UCSC Ensembl
Innerchr1:12768438..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38168677
hg19169645
hg18169645
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n100
Supporting Variantsnssv3478603, nssv3471011, nssv3697957, nssv3463338, nssv3697959, nssv3463773, nssv3469726, nssv3697958, nssv3467019, nssv3480395, nssv3481988, nssv3473319, nssv3471172, nssv3478585, nssv3474943, nssv3697960
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012081
Frequency
Sample Size29084
Observed Gain3
Observed Loss13
Observed Complex0
Frequencyn/a


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