A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519706



Internal ID15446999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104365978..104459021hg38UCSC Ensembl
Innerchr5:103701679..103794722hg19UCSC Ensembl
Innerchr5:103729578..103822621hg18UCSC Ensembl
Innerchr5:103729578..103822621hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3893044
hg1993044
hg1893044
hg1793044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657725, nssv684940, nssv705045, nssv672849, nssv682630
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519706
Frequency
Sample Size2026
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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