A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377356



Internal ID17743937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134923286..134928506hg38UCSC Ensembl
Innerchr5:134258976..134264196hg19UCSC Ensembl
Innerchr5:134286875..134292095hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385221
hg195221
hg185221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964940
Supporting Variants
SamplesHGDP00521
Known GenesMIR4461, PCBD2
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)nssv2377356
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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