A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582713



Internal ID16023436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113215368..113253214hg38UCSC Ensembl
Innerchr2:113972945..114010791hg19UCSC Ensembl
Innerchr2:113689416..113727261hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3837847
hg1937847
hg1837846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150489
SamplesHGDP00772
Known GenesPAX8, PAX8-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582713
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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