A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573714



Internal ID16014437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88801844..88829729hg38UCSC Ensembl
Innerchr16:88868252..88896137hg19UCSC Ensembl
Innerchr16:87395753..87423638hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3827886
hg1927886
hg1827886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149662
SamplesHGDP00078
Known GenesAPRT, CDT1, GALNS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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