A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592662



Internal ID16380071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183824938..183825817hg38UCSC Ensembl
Innerchr3:183542726..183543605hg19UCSC Ensembl
Innerchr3:185025420..185026299hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38880
hg19880
hg18880
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8758n54
Supporting Variantsnssv982563, nssv982565, nssv982566, nssv982564
Samples
Known GenesMAP6D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592662
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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