A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1862727



Internal ID17482153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:95995352..96001305hg38UCSC Ensembl
Innerchr10:97755109..97761062hg19UCSC Ensembl
Innerchr10:97745099..97751052hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg385954
hg195954
hg185954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948147
Supporting Variants
SamplesHGDP00998
Known GenesCC2D2B, ENTPD1-AS1
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)nssv1862727
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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