A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576426



Internal ID16017149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8110807..8645909hg38UCSC Ensembl
Innerchr18:8110805..8645907hg19UCSC Ensembl
Innerchr18:8100805..8635907hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38535103
hg19535103
hg18535103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878027
Samples
Known GenesLOC100192426, PTPRM, RAB12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576426
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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