A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037567



Internal ID19126786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52069511..52228664hg38UCSC Ensembl
Innerchr13:52643647..52802799hg19UCSC Ensembl
Innerchr13:51541648..51700800hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38159154
hg19159153
hg18159153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523466
Samples
Known GenesMRPS31P5, NEK3, NEK5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037567
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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