A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008507



Internal ID19097725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28633181..28659157hg38UCSC Ensembl
Innerchr2:28856047..28882023hg19UCSC Ensembl
Innerchr2:28709551..28735527hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3825977
hg1925977
hg1825977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3745n100
Supporting Variantsnssv3727991
Samples
Known GenesPLB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008507
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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