A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2274820



Internal ID17835183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:15636527..15641078hg38UCSC Ensembl
Innerchr3:15678034..15682585hg19UCSC Ensembl
Innerchr3:15653038..15657589hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384552
hg194552
hg184552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979807
Supporting Variants
SamplesHGDP00998
Known GenesBTD
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)nssv2274820
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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