A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573421



Internal ID16014144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84013110..84091665hg38UCSC Ensembl
Innerchr16:84046715..84125270hg19UCSC Ensembl
Innerchr16:82604216..82682771hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3878556
hg1978556
hg1878556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149332
SamplesHGDP00445
Known GenesMBTPS1, SLC38A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573421
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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