A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008607



Internal ID18751138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248561921..248647345hg38UCSC Ensembl
Innerchr1:248725222..248810646hg19UCSC Ensembl
Innerchr1:246791845..246877269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3885425
hg1985425
hg1885425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3705625, nssv3493757, nssv3485128, nssv3489432, nssv3499735, nssv3705624
Samples
Known GenesOR2T10, OR2T11, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008607
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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