A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004313



Internal ID18746844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116918089..117061175hg38UCSC Ensembl
Innerchr3:116636936..116780022hg19UCSC Ensembl
Innerchr3:118119626..118262712hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38143087
hg19143087
hg18143087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604485
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)nsv1004313
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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