A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012947



Internal ID18755478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32766316..32817450hg38UCSC Ensembl
Innerchr2:32991383..33042517hg19UCSC Ensembl
Innerchr2:32844887..32896021hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3851135
hg1951135
hg1851135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3752n100
Supporting Variantsnssv3728004
Samples
Known GenesTTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012947
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