A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023378



Internal ID18765911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996281..19008626hg38UCSC Ensembl
Innerchr8:18853791..18866136hg19UCSC Ensembl
Innerchr8:18898071..18910416hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3812346
hg1912346
hg1812346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7128n100
Supporting Variantsnssv3684213
Samples
Known GenesPSD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023378
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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