A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294992



Internal ID17859364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134434180..134446283hg38UCSC Ensembl
Innerchr3:134153022..134165125hg19UCSC Ensembl
Innerchr3:135635712..135647815hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3812104
hg1912104
hg1812104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967068
Supporting Variants
SamplesHGDP01284
Known GenesMIR4788
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)nssv2294992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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