A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970392



Internal ID17782200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76987478..76990515hg38UCSC Ensembl
Innerchr13:77561613..77564650hg19UCSC Ensembl
Innerchr13:76459614..76462651hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383038
hg193038
hg183038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974104
Supporting Variants
SamplesHGDP00665
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)nssv1970392
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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