A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1974698



Internal ID17821294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103599669..103606449hg38UCSC Ensembl
Innerchr13:104252019..104258799hg19UCSC Ensembl
Innerchr13:103050020..103056800hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg386781
hg196781
hg186781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977276
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)nssv1974698
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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