A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2696055



Internal ID17773735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:118658124..118667492hg38UCSC Ensembl
Innerchr4:119579279..119588647hg19UCSC Ensembl
Innerchr4:119798727..119808095hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg389369
hg199369
hg189369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967845
Supporting Variants
SamplesHGDP00542
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)nssv2696055
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