A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1949355



Internal ID17795909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18445861..18525572hg38UCSC Ensembl
Innerchr13:19020001..19099712hg19UCSC Ensembl
Innerchr13:17918000..17997712hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3879712
hg1979712
hg1879713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983542
Supporting Variants
SamplesHGDP00778
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)nssv1949355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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