A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999696



Internal ID18812546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247988731..248056075hg38UCSC Ensembl
Innerchr1:248152033..248219377hg19UCSC Ensembl
Innerchr1:246218656..246286000hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3867345
hg1967345
hg1867345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv609n100
Supporting Variantsnssv3483652
Samples
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999696
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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