A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998782



Internal ID18811632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248687290hg38UCSC Ensembl
Innerchr1:248749182..248850591hg19UCSC Ensembl
Innerchr1:246815805..246917214hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38101410
hg19101410
hg18101410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv638n100
Supporting Variantsnssv3499426
Samples
Known GenesOR14I1, OR2T10, 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)nsv998782
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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