A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921625



Internal ID17530692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31073093..31074288hg38UCSC Ensembl
Innerchr12:31226027..31227222hg19UCSC Ensembl
Innerchr12:31117294..31118489hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381196
hg191196
hg181196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975469
Supporting Variants
SamplesHGDP01307
Known GenesDDX11, DDX11-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1921625
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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