A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548991



Internal ID15989714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200822826..200893429hg38UCSC Ensembl
Innerchr1:200791954..200862557hg19UCSC Ensembl
Innerchr1:199058577..199129180hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3870604
hg1970604
hg1870604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734679
Samples
Known GenesC1orf106, CAMSAP2, GPR25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548991
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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