A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2706460



Internal ID17506117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57923797..57933639hg38UCSC Ensembl
Innerchr6:58250075..58259917hg19UCSC Ensembl
Innerchr6:58358034..58367876hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg389843
hg199843
hg189843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981219
Supporting Variants
SamplesHGDP01029
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2706460
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