A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998970



Internal ID19158506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54421767..54482762hg38UCSC Ensembl
Innerchr3:54455794..54516789hg19UCSC Ensembl
Innerchr3:54430834..54491829hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3860996
hg1960996
hg1860996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593380
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998970
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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