A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014913



Internal ID18757448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248174751..248477879hg38UCSC Ensembl
Innerchr1:248338053..248641180hg19UCSC Ensembl
Innerchr1:246404676..246707803hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38303129
hg19303128
hg18303128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv613n100
Supporting Variantsnssv3498209
Samples
Known GenesOR14C36, OR2M2, OR2M3, OR2M4, OR2M7, OR2T1, OR2T12, OR2T2, OR2T3, OR2T33, OR2T4, OR2T6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014913
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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