A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552045



Internal ID15992768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:99862766..100074335hg38UCSC Ensembl
Innerchr10:101622523..101834092hg19UCSC Ensembl
Innerchr10:101612513..101824082hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38211570
hg19211570
hg18211570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv756065
Samples
Known GenesCPN1, DNMBP, DNMBP-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552045
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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