A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998404



Internal ID18811254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248645796hg38UCSC Ensembl
Innerchr1:248732033..248809097hg19UCSC Ensembl
Innerchr1:246798656..246875720hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3877065
hg1977065
hg1877065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3486765, nssv3499945, nssv3484987, nssv3485517, nssv3497267, nssv3494282, nssv3492309, nssv3489764, nssv3487931, nssv3483457, nssv3705681, nssv3491123, nssv3482812, nssv3501645
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)nsv998404
Frequency
Sample Size29084
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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