A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932536



Internal ID17448889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53626282..53656410hg38UCSC Ensembl
Innerchr12:54020066..54050194hg19UCSC Ensembl
Innerchr12:52306333..52336461hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3830129
hg1930129
hg1830129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975496
Supporting Variants
SamplesHGDP00778
Known GenesATF7
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)nssv1932536
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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