A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2502247



Internal ID17803488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53344270..53359734hg38UCSC Ensembl
Innerchr8:54256830..54272294hg19UCSC Ensembl
Innerchr8:54419383..54434847hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3815465
hg1915465
hg1815465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971652
Supporting Variants
SamplesHGDP00778
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)nssv2502247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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