A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296868



Internal ID17455377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136735030..136739058hg38UCSC Ensembl
Innerchr3:136453872..136457900hg19UCSC Ensembl
Innerchr3:137936562..137940590hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg384029
hg194029
hg184029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965214
Supporting Variants
SamplesHGDP00778
Known GenesSTAG1
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)nssv2296868
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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