A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006604



Internal ID18749135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248645256..248715134hg38UCSC Ensembl
Innerchr1:248808557..248878435hg19UCSC Ensembl
Innerchr1:246875180..246945058hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3869879
hg1969879
hg1869879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642n100
Supporting Variantsnssv3488877
Samples
Known GenesOR14I1, OR2T27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006604
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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