A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012700



Internal ID18755232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248475313..248605673hg38UCSC Ensembl
Innerchr1:248638614..248768974hg19UCSC Ensembl
Innerchr1:246705237..246835597hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38130361
hg19130361
hg18130361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv617n100
Supporting Variantsnssv3496606
Samples
Known GenesOR2G6, OR2T10, OR2T29, OR2T34, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012700
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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