A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1858143



Internal ID17737260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73716823..73742712hg38UCSC Ensembl
Innerchr10:75476581..75502470hg19UCSC Ensembl
Innerchr10:75146587..75172476hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3825890
hg1925890
hg1825890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948070
Supporting Variants
SamplesHGDP00456
Known GenesBMS1P4, GLUD1P3
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)nssv1858143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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