A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508484



Internal ID17748979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70093548..70108414hg38UCSC Ensembl
Innerchr8:71005783..71020649hg19UCSC Ensembl
Innerchr8:71168337..71183203hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3814867
hg1914867
hg1814867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971319
Supporting Variants
SamplesHGDP00521
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)nssv2508484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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