A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000711



Internal ID19089928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5155756..5498040hg38UCSC Ensembl
Innerchr2:5295889..5638172hg19UCSC Ensembl
Innerchr2:5213340..5555623hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38342285
hg19342284
hg18342284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726740
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)nsv1000711
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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