A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1912659



Internal ID17483349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7716151..7719031hg38UCSC Ensembl
Innerchr12:7868747..7871627hg19UCSC Ensembl
Innerchr12:7760014..7762894hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382881
hg192881
hg182881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973011
Supporting Variants
SamplesHGDP00998
Known GenesDPPA3
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)nssv1912659
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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