A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2280752



Internal ID17799623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:40698270..40701583hg38UCSC Ensembl
Innerchr3:40739761..40743074hg19UCSC Ensembl
Innerchr3:40714765..40718078hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg383314
hg193314
hg183314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979822
Supporting Variants
SamplesHGDP00778
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)nssv2280752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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