A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378708



Internal ID17846207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139027795..139039946hg38UCSC Ensembl
Innerchr5:138363484..138375635hg19UCSC Ensembl
Innerchr5:138391383..138403534hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3812152
hg1912152
hg1812152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968249
Supporting Variants
SamplesHGDP01029
Known GenesSIL1
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)nssv2378708
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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