A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042588



Internal ID19131807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88387330..88461322hg38UCSC Ensembl
Innerchr12:88781107..88855099hg19UCSC Ensembl
Innerchr12:87305238..87379230hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3873993
hg1973993
hg1873993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1543n100
Supporting Variantsnssv3524803
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042588
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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