A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2464716



Internal ID17496945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76520224..76544535hg38UCSC Ensembl
Innerchr7:76149541..76173852hg19UCSC Ensembl
Innerchr7:75987477..76011788hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3824312
hg1924312
hg1824312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970542
Supporting Variants
SamplesHGDP01029
Known GenesUPK3B
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)nssv2464716
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