A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010502



Internal ID18753033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248561921..248627066hg38UCSC Ensembl
Innerchr1:248725222..248790367hg19UCSC Ensembl
Innerchr1:246791845..246856990hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865146
hg1965146
hg1865146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627n100
Supporting Variantsnssv3493010, nssv3483828, nssv3705619, nssv3487212, nssv3485087
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)nsv1010502
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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