A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1912408



Internal ID17416813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6536306..6538095hg38UCSC Ensembl
Innerchr12:6645472..6647261hg19UCSC Ensembl
Innerchr12:6515733..6517522hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381790
hg191790
hg181790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983266
Supporting Variants
SamplesHGDP00542
Known GenesGAPDH
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)nssv1912408
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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