A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1950563



Internal ID17814446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18962829..18965235hg38UCSC Ensembl
Innerchr13:19536969..19539375hg19UCSC Ensembl
Innerchr13:18434969..18437375hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382407
hg192407
hg182407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977194
Supporting Variants
SamplesHGDP00927
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)nssv1950563
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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