A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477876



Internal ID17745879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130505006..130506230hg38UCSC Ensembl
Innerchr7:130144847..130146071hg19UCSC Ensembl
Innerchr7:129932083..129933307hg18UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381225
hg191225
hg181225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966888
Supporting Variants
SamplesHGDP00521
Known GenesMEST
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)nssv2477876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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