A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932404



Internal ID17481701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53031207..53034829hg38UCSC Ensembl
Innerchr12:53424991..53428613hg19UCSC Ensembl
Innerchr12:51711258..51714880hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383623
hg193623
hg183623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973069
Supporting Variants
SamplesHGDP00998
Known GenesEIF4B
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)nssv1932404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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