A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1751674



Internal ID17496946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1671930..1674224hg38UCSC Ensembl
Innerchr1:1603369..1605663hg19UCSC Ensembl
Innerchr1:1593232..1595526hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382295
hg192295
hg182295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945745
Supporting Variants
SamplesHGDP01029
Known GenesCDK11B, SLC35E2B
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)nssv1751674
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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