A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004141



Internal ID18746672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248520087..248631976hg38UCSC Ensembl
Innerchr1:248683388..248795277hg19UCSC Ensembl
Innerchr1:246750011..246861900hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38111890
hg19111890
hg18111890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv620n100
Supporting Variantsnssv3487680
Samples
Known GenesOR2G6, OR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004141
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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