A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2345832



Internal ID17804854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8618804..8622613hg38UCSC Ensembl
Innerchr5:8618916..8622725hg19UCSC Ensembl
Innerchr5:8671916..8675725hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg383810
hg193810
hg183810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968875
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)nssv2345832
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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