A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999686



Internal ID18812536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248664923hg38UCSC Ensembl
Innerchr1:248749182..248828224hg19UCSC Ensembl
Innerchr1:246815805..246894847hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3879043
hg1979043
hg1879043
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636n100
Supporting Variantsnssv3490797, nssv3497190, nssv3490291, nssv3498913, nssv3501258, nssv3488308, nssv3497946
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999686
Frequency
Sample Size29084
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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