A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2389325



Internal ID17875548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179634851..179652828hg38UCSC Ensembl
Innerchr5:179061852..179079829hg19UCSC Ensembl
Innerchr5:178994458..179012435hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3817978
hg1917978
hg1817978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969027
Supporting Variants
SamplesHGDP01284
Known GenesC5orf60
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)nssv2389325
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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