A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2470112



Internal ID17871719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94695031..94697473hg38UCSC Ensembl
Innerchr7:94324343..94326785hg19UCSC Ensembl
Innerchr7:94162279..94164721hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382443
hg192443
hg182443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970906
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2470112
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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