A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012905



Internal ID18755437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64115335..64281849hg38UCSC Ensembl
Innerchr2:64342469..64508983hg19UCSC Ensembl
Innerchr2:64195973..64362487hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38166515
hg19166515
hg18166515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3861n100
Supporting Variantsnssv3577264
Samples
Known GenesLINC00309, PELI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012905
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