A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1934136



Internal ID17388726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57819874..57824613hg38UCSC Ensembl
Innerchr12:58213657..58218396hg19UCSC Ensembl
Innerchr12:56499924..56504663hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg384740
hg194740
hg184740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983335
Supporting Variants
SamplesHGDP00456
Known GenesCTDSP2, MIR26A2
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)nssv1934136
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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