A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526264



Internal ID6023493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56912903..56926793hg19UCSC Ensembl
Innerchr16:55470404..55484294hg18UCSC Ensembl
Innerchr16:55470404..55484294hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv702537
Samples
Known GenesSLC12A3
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv526264
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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