A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1785697



Internal ID17780584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119514063..119515756hg38UCSC Ensembl
Innerchr1:120056686..120058379hg19UCSC Ensembl
Innerchr1:119858209..119859902hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946184
Supporting Variants
SamplesHGDP00665
Known GenesHSD3B1
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)nssv1785697
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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