A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378608



Internal ID17524563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138554755..138556387hg38UCSC Ensembl
Innerchr5:137890444..137892076hg19UCSC Ensembl
Innerchr5:137918343..137919975hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381633
hg191633
hg181633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968991
Supporting Variants
SamplesHGDP01284
Known GenesHSPA9
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)nssv2378608
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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