A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005788



Internal ID19095005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13060017..13133612hg38UCSC Ensembl
Innerchr2:13200142..13273737hg19UCSC Ensembl
Innerchr2:13117593..13191188hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3873596
hg1973596
hg1873596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3576977
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)nsv1005788
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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