A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999508



Internal ID19159045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45097625..45123186hg38UCSC Ensembl
Innerchr2:45324764..45350325hg19UCSC Ensembl
Innerchr2:45178268..45203829hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3825562
hg1925562
hg1825562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725992
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)nsv999508
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