A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598657



Internal ID16386066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75052851..75053663hg38UCSC Ensembl
Innerchr5:74348676..74349488hg19UCSC Ensembl
Innerchr5:74384432..74385244hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9880n54
Supporting Variantsnssv1035105, nssv1035106, nssv1035103, nssv1035104
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598657
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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