A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2717805



Internal ID17400343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76527026..76544535hg38UCSC Ensembl
Innerchr7:76156343..76173852hg19UCSC Ensembl
Innerchr7:75994279..76011788hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817510
hg1917510
hg1817510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981671
Supporting Variants
SamplesHGDP00521
Known GenesUPK3B
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)nssv2717805
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