A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932311



Internal ID17498168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53018641..53020390hg38UCSC Ensembl
Innerchr12:53412425..53414174hg19UCSC Ensembl
Innerchr12:51698692..51700441hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381750
hg191750
hg181750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976625
Supporting Variants
SamplesHGDP01029
Known GenesEIF4B
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)nssv1932311
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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