A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005318



Internal ID18747849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248661824..248720513hg38UCSC Ensembl
Innerchr1:248825125..248883814hg19UCSC Ensembl
Innerchr1:246891748..246950437hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3858690
hg1958690
hg1858690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642n100
Supporting Variantsnssv3490528
Samples
Known GenesOR14I1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005318
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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