A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004692



Internal ID18747223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46760315..46805739hg38UCSC Ensembl
Innerchr3:46801805..46847229hg19UCSC Ensembl
Innerchr3:46776809..46822233hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3845425
hg1945425
hg1845425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4736n100
Supporting Variantsnssv3591054, nssv3591051, nssv3591050, nssv3591052, nssv3591053
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)nsv1004692
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer