A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012648



Internal ID18755180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248561921..248626379hg38UCSC Ensembl
Innerchr1:248725222..248789680hg19UCSC Ensembl
Innerchr1:246791845..246856303hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3864459
hg1964459
hg1864459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627n100
Supporting Variantsnssv3497129, nssv3498204
Samples
Known GenesOR2T10, OR2T11, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012648
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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