A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001879



Internal ID18744410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127956099..128143493hg38UCSC Ensembl
Innerchr3:127674942..127862336hg19UCSC Ensembl
Innerchr3:129157632..129345026hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38187395
hg19187395
hg18187395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3736413
Samples
Known GenesKBTBD12, RUVBL1, SEC61A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001879
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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