A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591461



Internal ID16378870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125212648..125218052hg38UCSC Ensembl
Innerchr3:124931492..124936896hg19UCSC Ensembl
Innerchr3:126414182..126419586hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg385405
hg195405
hg185405
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971893, nssv971892, nssv971891
Samples
Known GenesSLC12A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591461
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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