A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053637



Internal ID18796168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19125919..19231740hg38UCSC Ensembl
Innerchr13:19700059..19805880hg19UCSC Ensembl
Innerchr13:18598059..18703880hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38105822
hg19105822
hg18105822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3527562, nssv3714937
Samples
Known GenesRNU6-52P, TUBA3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053637
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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