A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997866



Internal ID19157402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248161369..248263182hg38UCSC Ensembl
Innerchr1:248324671..248426484hg19UCSC Ensembl
Innerchr1:246391294..246493107hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38101814
hg19101814
hg18101814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv614n100
Supporting Variantsnssv3485651
Samples
Known GenesOR2M2, OR2M3, OR2M4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997866
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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