A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031488



Internal ID19120710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:113370442..113406877hg38UCSC Ensembl
Innerchr8:114382671..114419106hg19UCSC Ensembl
Innerchr8:114451847..114488282hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3836436
hg1936436
hg1836436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7286n100
Supporting Variantsnssv3691312, nssv3691311
Samples
Known GenesCSMD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031488
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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