A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002300



Internal ID19091517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:35593856..35864406hg38UCSC Ensembl
Innerchr2:35818922..36089472hg19UCSC Ensembl
Innerchr2:35672426..35942976hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38270551
hg19270551
hg18270551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3788n100
Supporting Variantsnssv3581244
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002300
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer