A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2278080



Internal ID17785226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42341822..42343012hg38UCSC Ensembl
Innerchr3:42383314..42384504hg19UCSC Ensembl
Innerchr3:42358318..42359508hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381191
hg191191
hg181191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967007
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2278080
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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