A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472260



Internal ID17439901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100137962..100142855hg38UCSC Ensembl
Innerchr7:99735585..99740478hg19UCSC Ensembl
Innerchr7:99573521..99578414hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384894
hg194894
hg184894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966865
Supporting Variants
SamplesHGDP00665
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)nssv2472260
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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