A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2470912



Internal ID17493356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99749052..99758225hg38UCSC Ensembl
Innerchr7:99346675..99355848hg19UCSC Ensembl
Innerchr7:99184611..99193784hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389174
hg199174
hg189174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981555
Supporting Variants
SamplesHGDP00998
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)nssv2470912
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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