A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034144



Internal ID19123366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:84318399..84356419hg38UCSC Ensembl
Innerchr8:85230634..85268654hg19UCSC Ensembl
Innerchr8:85393189..85431209hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3838021
hg1938021
hg1838021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7251n100
Supporting Variantsnssv3689609, nssv3689608
Samples
Known GenesRALYL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034144
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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