A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518283



Internal ID15445576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104311313..104340640hg38UCSC Ensembl
Innerchr5:103647014..103676341hg19UCSC Ensembl
Innerchr5:103674913..103704240hg18UCSC Ensembl
Innerchr5:103674913..103704240hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3829328
hg1929328
hg1829328
hg1729328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695714
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518283
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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