A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv927512



Internal ID16221468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179276887..179368900hg38UCSC Ensembl
Innerchr2:180141614..180233627hg19UCSC Ensembl
Innerchr2:179849859..179941872hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3892014
hg1992014
hg1892014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583866
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)nssv927512
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