A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009036



Internal ID18751567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248442439..248534078hg38UCSC Ensembl
Innerchr1:248605740..248697379hg19UCSC Ensembl
Innerchr1:246672363..246764002hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3891640
hg1991640
hg1891640
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486872, nssv3495101
Samples
Known GenesOR2G6, OR2T2, OR2T3, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009036
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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