A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695256



Internal ID15085222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54375499..55705332hg38UCSC Ensembl
Innerchr3:54409526..55739360hg19UCSC Ensembl
Innerchr3:54384566..55714400hg18UCSC Ensembl
Innerchr3:54384566..55714400hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381329834
hg191329835
hg181329835
hg171329835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517851
Supporting Variants
Samples
Known GenesCACNA2D3, CACNA2D3-AS1, ERC2, ERC2-IT1, ESRG, LRTM1, WNT5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695256
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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