A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005763



Internal ID18748294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131058741..131131667hg38UCSC Ensembl
Innerchr2:131816314..131889240hg19UCSC Ensembl
Innerchr2:131532784..131605710hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3872927
hg1972927
hg1872927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580847
Samples
Known GenesFAM168B, PLEKHB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005763
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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