A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921705



Internal ID17530836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31074788..31077366hg38UCSC Ensembl
Innerchr12:31227722..31230300hg19UCSC Ensembl
Innerchr12:31118989..31121567hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382579
hg192579
hg182579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983300
Supporting Variants
SamplesHGDP01307
Known GenesDDX11
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)nssv1921705
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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