A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2704227



Internal ID17780427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181339968..181342772hg38UCSC Ensembl
Innerchr5:180766969..180769773hg19UCSC Ensembl
Innerchr5:180699575..180702379hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382805
hg192805
hg182805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964995
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2704227
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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