A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585613



Internal ID18537208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:210222864..210450830hg38UCSC Ensembl
Innerchr2:211087588..211315554hg19UCSC Ensembl
Innerchr2:210795833..211023799hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38227967
hg19227967
hg18227967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012567
Supporting Variants
Samples
Known GenesACADL, LANCL1, MYL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585613
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