A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2359546



Internal ID17850173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69312894..69314874hg38UCSC Ensembl
Innerchr5:68608721..68610701hg19UCSC Ensembl
Innerchr5:68644477..68646457hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381981
hg191981
hg181981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968921
Supporting Variants
SamplesHGDP01029
Known GenesCCDC125
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)nssv2359546
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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