A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1831697



Internal ID17530216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4971601..5011656hg38UCSC Ensembl
Innerchr10:5013793..5053848hg19UCSC Ensembl
Innerchr10:5003793..5043848hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3840056
hg1940056
hg1840056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947727
Supporting Variants
SamplesHGDP01307
Known GenesAKR1C1, AKR1C2
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)nssv1831697
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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