A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030505



Internal ID19119724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:24827618..24896894hg38UCSC Ensembl
Innerchr8:24685131..24754407hg19UCSC Ensembl
Innerchr8:24741021..24810310hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3869277
hg1969277
hg1869290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685381
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)nsv1030505
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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