A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1836247



Internal ID17844110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28432474..28437821hg38UCSC Ensembl
Innerchr10:28721403..28726750hg19UCSC Ensembl
Innerchr10:28761409..28766756hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg385348
hg195348
hg185348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947796
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv1836247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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