A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011938



Internal ID18754474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248645551hg38UCSC Ensembl
Innerchr1:248732033..248808852hg19UCSC Ensembl
Innerchr1:246798656..246875475hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876820
hg1976820
hg1876820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3494722, nssv3485623, nssv3486450, nssv3495283, nssv3490634
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)nsv1011938
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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