A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739146



Internal ID15686416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242302353..242825855hg38UCSC Ensembl
Innerchr1:242465655..242989157hg19UCSC Ensembl
Innerchr1:240532278..241055780hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38523503
hg19523503
hg18523503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549465
Supporting Variants
Samples
Known GenesPLD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv739146
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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