A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1867127



Internal ID17829019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:114688955..114691382hg38UCSC Ensembl
Innerchr10:116448714..116451141hg19UCSC Ensembl
Innerchr10:116438704..116441131hg18UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg382428
hg192428
hg182428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948193
Supporting Variants
SamplesHGDP00998
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)nssv1867127
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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