A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2471271



Internal ID17392713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99760896..99792284hg38UCSC Ensembl
Innerchr7:99358519..99389907hg19UCSC Ensembl
Innerchr7:99196455..99227843hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3831389
hg1931389
hg1831389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970558
Supporting Variants
SamplesHGDP00456
Known GenesCYP3A4
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)nssv2471271
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