A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576399



Internal ID16363808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7488135..7934003hg38UCSC Ensembl
Innerchr18:7488133..7934001hg19UCSC Ensembl
Innerchr18:7478133..7924001hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38445869
hg19445869
hg18445869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877984
Samples
Known GenesPTPRM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576399
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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