A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356475



Internal ID17786489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56129229..56140190hg38UCSC Ensembl
Innerchr5:55425056..55436017hg19UCSC Ensembl
Innerchr5:55460813..55471774hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810962
hg1910962
hg1810962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980644
Supporting Variants
SamplesHGDP00665
Known GenesANKRD55
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)nssv2356475
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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