A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1927400



Internal ID17416187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48829550..48830751hg38UCSC Ensembl
Innerchr12:49223333..49224534hg19UCSC Ensembl
Innerchr12:47509600..47510801hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381202
hg191202
hg181202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976609
Supporting Variants
SamplesHGDP00542
Known GenesDDX23
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)nssv1927400
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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