A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488713



Internal ID17775879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152794079..152802632hg38UCSC Ensembl
Innerchr7:152491164..152499717hg19UCSC Ensembl
Innerchr7:152122097..152130650hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388554
hg198554
hg188554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970977
Supporting Variants
SamplesHGDP00542
Known GenesACTR3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2488713
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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