A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011142



Internal ID18753676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248655170hg38UCSC Ensembl
Innerchr1:248732033..248818471hg19UCSC Ensembl
Innerchr1:246798656..246885094hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3886439
hg1986439
hg1886439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3495019, nssv3499074, nssv3708295, nssv3496100, nssv3492257, nssv3493470, nssv3495876, nssv3487825, nssv3500644, nssv3486853
Samples
Known GenesOR2T10, OR2T11, OR2T27, 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)nsv1011142
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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