A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2386920



Internal ID17740116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177698152..177733020hg38UCSC Ensembl
Innerchr5:177125153..177160021hg19UCSC Ensembl
Innerchr5:177057759..177092627hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3834869
hg1934869
hg1834869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968279
Supporting Variants
SamplesHGDP00456
Known GenesFAM153A
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)nssv2386920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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