A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294268



Internal ID17854256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127749483..127750552hg38UCSC Ensembl
Innerchr3:127468326..127469395hg19UCSC Ensembl
Innerchr3:128951016..128952085hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv979875
Supporting Variants
SamplesHGDP01029
Known GenesMGLL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2294268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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