A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921886



Internal ID17531270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29388959..29394869hg38UCSC Ensembl
Innerchr12:29541892..29547802hg19UCSC Ensembl
Innerchr12:29433159..29439069hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385911
hg195911
hg185911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975466
Supporting Variants
SamplesHGDP01307
Known GenesOVCH1-AS1
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)nssv1921886
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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