A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997459



Internal ID18810309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25256176..25346651hg38UCSC Ensembl
Innerchr1:25582667..25673142hg19UCSC Ensembl
Innerchr1:25455254..25545729hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3890476
hg1990476
hg1890476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv133n100
Supporting Variantsnssv3463722
Samples
Known GenesRHD, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997459
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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