A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004940



Internal ID18747471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196008062..196050340hg38UCSC Ensembl
Innerchr3:195734933..195777211hg19UCSC Ensembl
Innerchr3:197219330..197261608hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3842279
hg1942279
hg1842279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616991
Samples
Known GenesTFRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004940
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