A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009315



Internal ID18751846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12822696hg38UCSC Ensembl
Innerchr1:12852748..12882559hg19UCSC Ensembl
Innerchr1:12775335..12805146hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3830098
hg1929812
hg1829812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32n100
Supporting Variantsnssv3481383, nssv3463226, nssv3473779, nssv3697975, nssv3470809, nssv3469604, nssv3476421
Samples
Known GenesPRAMEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009315
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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