A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2338710



Internal ID17426803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153307253..153308442hg38UCSC Ensembl
Innerchr4:154228405..154229594hg19UCSC Ensembl
Innerchr4:154447855..154449044hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381190
hg191190
hg181190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966329
Supporting Variants
SamplesHGDP00542
Known GenesANXA2P1, TRIM2
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)nssv2338710
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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