A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2293020



Internal ID17752162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:114102109..114103448hg38UCSC Ensembl
Innerchr3:113820956..113822295hg19UCSC Ensembl
Innerchr3:115303646..115304985hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381340
hg191340
hg181340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963351
Supporting Variants
SamplesHGDP00521
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)nssv2293020
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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