A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2354058



Internal ID17805468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36885029..36886982hg38UCSC Ensembl
Innerchr5:36885131..36887084hg19UCSC Ensembl
Innerchr5:36920888..36922841hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381954
hg191954
hg181954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964843
Supporting Variants
SamplesHGDP00778
Known GenesNIPBL
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)nssv2354058
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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