A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009225



Internal ID18751756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806942..12855993hg38UCSC Ensembl
Innerchr1:12867078..12915847hg19UCSC Ensembl
Innerchr1:12789665..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3849052
hg1948770
hg1848770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n100
Supporting Variantsnssv3473977, nssv3463098, nssv3470727, nssv3464037, nssv3480179, nssv3467469, nssv3477588, nssv3472178
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009225
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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