A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013062



Internal ID18755593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248555302..248650779hg38UCSC Ensembl
Innerchr1:248718603..248814080hg19UCSC Ensembl
Innerchr1:246785226..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3895478
hg1995478
hg1895478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3705618, nssv3484668, nssv3502245
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, 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)nsv1013062
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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