A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2484637



Internal ID17743197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149331682..149355832hg38UCSC Ensembl
Innerchr7:149028773..149052923hg19UCSC Ensembl
Innerchr7:148659706..148683856hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3824151
hg1924151
hg1824151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970601
Supporting Variants
SamplesHGDP00456
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)nssv2484637
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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