A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2704268



Internal ID17879673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181342772..181351190hg38UCSC Ensembl
Innerchr5:180769773..180778191hg19UCSC Ensembl
Innerchr5:180702379..180710797hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388419
hg198419
hg188419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968352
Supporting Variants
SamplesHGDP01307
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)nssv2704268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer