A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2354176



Internal ID17812929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40066640..40067674hg38UCSC Ensembl
Innerchr5:40066742..40067776hg19UCSC Ensembl
Innerchr5:40102499..40103533hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968906
Supporting Variants
SamplesHGDP00927
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)nssv2354176
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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