A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000875



Internal ID18743406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12746824..12799252hg38UCSC Ensembl
Innerchr1:12806772..12859401hg19UCSC Ensembl
Innerchr1:12729359..12781988hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3852429
hg1952630
hg1852630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19n100
Supporting Variantsnssv3472284, nssv3467271
Samples
Known GenesC1orf158, PRAMEF1, PRAMEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000875
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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