A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2357128



Internal ID17885806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56294807..56298216hg38UCSC Ensembl
Innerchr5:55590634..55594043hg19UCSC Ensembl
Innerchr5:55626391..55629800hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383410
hg193410
hg183410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964857
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2357128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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