A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2387549



Internal ID17493069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176346342..176348319hg38UCSC Ensembl
Innerchr5:175773345..175775322hg19UCSC Ensembl
Innerchr5:175705951..175707928hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381978
hg191978
hg181978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980762
Supporting Variants
SamplesHGDP00998
Known GenesKIAA1191
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)nssv2387549
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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