A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000247



Internal ID18742778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4064811..4141728hg38UCSC Ensembl
Innerchr3:4106495..4183412hg19UCSC Ensembl
Innerchr3:4081495..4158412hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3876918
hg1976918
hg1876918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4647n100
Supporting Variantsnssv3590442
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)nsv1000247
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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