A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305791



Internal ID17519826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:180884990..180889664hg38UCSC Ensembl
Innerchr3:180602778..180607452hg19UCSC Ensembl
Innerchr3:182085472..182090146hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg384675
hg194675
hg184675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965237
Supporting Variants
SamplesHGDP01284
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)nssv2305791
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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