A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519507



Internal ID15100114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86174966..86321739hg38UCSC Ensembl
Innerchr8:87187195..87333968hg19UCSC Ensembl
Innerchr8:87256311..87403084hg18UCSC Ensembl
Innerchr8:87256311..87403084hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38146774
hg19146774
hg18146774
hg17146774
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656452, nssv679671, nssv678919, nssv695925
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519507
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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