A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1851452



Internal ID17795203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58714825..58718609hg38UCSC Ensembl
Innerchr10:60474585..60478369hg19UCSC Ensembl
Innerchr10:60144591..60148375hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383785
hg193785
hg183785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948028
Supporting Variants
SamplesHGDP00778
Known GenesBICC1, FAM133CP
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)nssv1851452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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