A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012562



Internal ID18755095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200826120..200937345hg38UCSC Ensembl
Innerchr1:200795248..200906473hg19UCSC Ensembl
Innerchr1:199061871..199173096hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38111226
hg19111226
hg18111226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496440
Samples
Known GenesC1orf106, CAMSAP2, GPR25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012562
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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