A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549369



Internal ID16336778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234263134..234277613hg38UCSC Ensembl
Innerchr1:234398880..234413359hg19UCSC Ensembl
Innerchr1:232465503..232479982hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3814480
hg1914480
hg1814480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738138
Samples
Known GenesSLC35F3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549369
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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