A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446212



Internal ID17394531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45729728..45825162hg38UCSC Ensembl
Innerchr7:45769327..45864761hg19UCSC Ensembl
Innerchr7:45735852..45831286hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3895435
hg1995435
hg1895435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966790
Supporting Variants
SamplesHGDP00456
Known GenesSEPT7P2
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)nssv2446212
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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