A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956083



Internal ID17533492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24398558..24444213hg38UCSC Ensembl
Innerchr13:24972696..25018351hg19UCSC Ensembl
Innerchr13:23870696..23916351hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3845656
hg1945656
hg1845656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977216
Supporting Variants
SamplesHGDP01307
Known GenesPARP4
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)nssv1956083
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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