A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2276767



Internal ID17513860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39408597..39412433hg38UCSC Ensembl
Innerchr3:39450088..39453924hg19UCSC Ensembl
Innerchr3:39425092..39428928hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg383837
hg193837
hg183837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963310
Supporting Variants
SamplesHGDP01284
Known GenesRPSA, SNORA62
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)nssv2276767
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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