A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014905



Internal ID18757440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61285269..61508311hg38UCSC Ensembl
Innerchr2:61512404..61735446hg19UCSC Ensembl
Innerchr2:61365908..61588950hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38223043
hg19223043
hg18223043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577247
Samples
Known GenesSNORA70B, USP34, XPO1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014905
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