A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757269



Internal ID18708864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54077172..54176800hg38UCSC Ensembl
Innerchr8:54989732..55089360hg19UCSC Ensembl
Innerchr8:55152285..55251913hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3899629
hg1999629
hg1899629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026869
Supporting Variants
Samples
Known GenesLYPLA1, MRPL15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3757269
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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