A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007887



Internal ID18750418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248645551hg38UCSC Ensembl
Innerchr1:248749182..248808852hg19UCSC Ensembl
Innerchr1:246815805..246875475hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859671
hg1959671
hg1859671
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3486502, nssv3706724, nssv3501000, nssv3489951, nssv3496087, nssv3706725, nssv3490315, nssv3495383, nssv3484575, nssv3496990, nssv3484733, nssv3495863, nssv3501827, nssv3490142, nssv3496871, nssv3492269, nssv3706726, nssv3488201
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007887
Frequency
Sample Size29084
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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