A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv883090



Internal ID15830360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50351271..50439635hg38UCSC Ensembl
Innerchr18:47877641..47966005hg19UCSC Ensembl
Innerchr18:46131639..46220003hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3888365
hg1988365
hg1888365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576890
Supporting Variants
Samples
Known GenesSKA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv883090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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