A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000658



Internal ID18743189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39147065..39239233hg38UCSC Ensembl
Innerchr2:39374206..39466374hg19UCSC Ensembl
Innerchr2:39227710..39319878hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3892169
hg1992169
hg1892169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581476
Samples
Known GenesCDKL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000658
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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