A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1914452



Internal ID17531772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8635335..8637635hg38UCSC Ensembl
Innerchr12:8787931..8790231hg19UCSC Ensembl
Innerchr12:8679198..8681498hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382301
hg192301
hg182301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973017
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv1914452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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