A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956832



Internal ID17463794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27828708..27829994hg38UCSC Ensembl
Innerchr13:28402845..28404131hg19UCSC Ensembl
Innerchr13:27300845..27302131hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg381287
hg191287
hg181287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977221
Supporting Variants
SamplesHGDP00927
Known GenesPDX1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1956832
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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