A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2385643



Internal ID17868589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161750625..161751732hg38UCSC Ensembl
Innerchr5:161177631..161178738hg19UCSC Ensembl
Innerchr5:161110209..161111316hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381108
hg191108
hg181108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964968
Supporting Variants
SamplesHGDP01284
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)nssv2385643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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