A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2308603



Internal ID17769737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198174736..198225981hg38UCSC Ensembl
Innerchr3:197901607..197952852hg19UCSC Ensembl
Innerchr3:199386004..199437249hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851246
hg1951246
hg1851246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965252
Supporting Variants
SamplesHGDP00542
Known GenesFAM157A
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)nssv2308603
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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