A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2375835



Internal ID17836034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132065133..132068121hg38UCSC Ensembl
Innerchr5:131400826..131403814hg19UCSC Ensembl
Innerchr5:131428725..131431713hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382989
hg192989
hg182989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968986
Supporting Variants
SamplesHGDP00998
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)nssv2375835
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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