A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006973



Internal ID18749504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12853295hg38UCSC Ensembl
Innerchr1:12845851..12913148hg19UCSC Ensembl
Innerchr1:12768438..12835735hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3867588
hg1967298
hg1867298
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n100
Supporting Variantsnssv3468283, nssv3482681, nssv3474617, nssv3468171, nssv3697923, nssv3469532, nssv3697924, nssv3471756, nssv3478268, nssv3481938, nssv3473712
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)nsv1006973
Frequency
Sample Size29084
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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