A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970197



Internal ID17847626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76928055..76933280hg38UCSC Ensembl
Innerchr13:77502189..77507414hg19UCSC Ensembl
Innerchr13:76400190..76405415hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385226
hg195226
hg185226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974102
Supporting Variants
SamplesHGDP01029
Known GenesBTF3P11
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)nssv1970197
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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