A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377266



Internal ID17787507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134862471..134863641hg38UCSC Ensembl
Innerchr5:134198161..134199331hg19UCSC Ensembl
Innerchr5:134226060..134227230hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381171
hg191171
hg181171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980728
Supporting Variants
SamplesHGDP00665
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)nssv2377266
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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