A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552542



Internal ID16339951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133111093..133111954hg38UCSC Ensembl
Innerchr10:134924597..134925458hg19UCSC Ensembl
Innerchr10:134774587..134775448hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38862
hg19862
hg18862
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1466n54
Supporting Variantsnssv761984, nssv761983
Samples
Known GenesGPR123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552542
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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