A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519897



Internal ID6022561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56946197..56946421hg19UCSC Ensembl
Innerchr16:55503698..55503922hg18UCSC Ensembl
Innerchr16:55503698..55503922hg17UCSC 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 Variantsnssv697113
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)nsv519897
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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