A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970545



Internal ID17815946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78761109..78764897hg38UCSC Ensembl
Innerchr13:79335244..79339032hg19UCSC Ensembl
Innerchr13:78233245..78237033hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383789
hg193789
hg183789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983606
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)nssv1970545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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