A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904480



Internal ID16198436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24490840..24492042hg38UCSC Ensembl
Innerchr2:24713709..24714911hg19UCSC Ensembl
Innerchr2:24567213..24568415hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381203
hg191203
hg181203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581189
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904480
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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