A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958737



Internal ID17847662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30553779..30554950hg38UCSC Ensembl
Innerchr13:31127916..31129087hg19UCSC Ensembl
Innerchr13:30025916..30027087hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983573
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv1958737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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