A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549271



Internal ID15989994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227223302..227393316hg38UCSC Ensembl
Innerchr1:227411003..227581017hg19UCSC Ensembl
Innerchr1:225477626..225647640hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38170015
hg19170015
hg18170015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737369
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549271
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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