A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2504454



Internal ID17496565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56072730..56073230hg38UCSC Ensembl
Innerchr8:56985289..56985789hg19UCSC Ensembl
Innerchr8:57147843..57148343hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967592
Supporting Variants
SamplesHGDP01029
Known GenesRPS20
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)nssv2504454
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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