A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1923786



Internal ID17760911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31049001..31051397hg38UCSC Ensembl
Innerchr12:31201935..31204331hg19UCSC Ensembl
Innerchr12:31093202..31095598hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382397
hg192397
hg182397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv973042
Supporting Variants
SamplesHGDP00542
Known GenesDDX11-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1923786
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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