A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549269



Internal ID16336678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227036035..227153089hg38UCSC Ensembl
Innerchr1:227223736..227340790hg19UCSC Ensembl
Innerchr1:225290359..225407413hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38117055
hg19117055
hg18117055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174051
SamplesNINDS_142
Known GenesCDC42BPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549269
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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