A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1974148



Internal ID17783972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114332204..114344403hg38UCSC Ensembl
Innerchr13:115097679..115109878hg19UCSC Ensembl
Innerchr13:114115781..114128098hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812200
hg1912200
hg1812318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974123
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)nssv1974148
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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