A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010059



Internal ID18752590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248475313..248661824hg38UCSC Ensembl
Innerchr1:248638614..248825125hg19UCSC Ensembl
Innerchr1:246705237..246891748hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38186512
hg19186512
hg18186512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491783
Samples
Known GenesOR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010059
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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