A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2489395



Internal ID17842762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157192257..157197849hg38UCSC Ensembl
Innerchr7:156984951..156990543hg19UCSC Ensembl
Innerchr7:156677712..156683304hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385593
hg195593
hg185593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966918
Supporting Variants
SamplesHGDP00998
Known GenesUBE3C
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)nssv2489395
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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