A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001365



Internal ID19090582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43552495..43644136hg38UCSC Ensembl
Innerchr2:43779634..43871275hg19UCSC Ensembl
Innerchr2:43633138..43724779hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3891642
hg1991642
hg1891642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581581
Samples
Known GenesPLEKHH2, THADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001365
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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