A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1926932



Internal ID17745486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49617004..49619562hg38UCSC Ensembl
Innerchr12:50010787..50013345hg19UCSC Ensembl
Innerchr12:48297054..48299612hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382559
hg192559
hg182559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976613
Supporting Variants
SamplesHGDP00521
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)nssv1926932
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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