A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001783



Internal ID18744314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46751875..46818330hg38UCSC Ensembl
Innerchr3:46793365..46859820hg19UCSC Ensembl
Innerchr3:46768369..46834824hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3866456
hg1966456
hg1866456
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4734n100
Supporting Variantsnssv3590972, nssv3590974, nssv3590968, nssv3590965, nssv3590973, nssv3739719, nssv3590967, nssv3590971, nssv3590969, nssv3590966, nssv3590970
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)nsv1001783
Frequency
Sample Size29084
Observed Gain2
Observed Loss9
Observed Complex0
Frequencyn/a


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