A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1869164



Internal ID17829113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122620900..122622629hg38UCSC Ensembl
Innerchr10:124380416..124382145hg19UCSC Ensembl
Innerchr10:124370406..124372135hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381730
hg191730
hg181730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948211
Supporting Variants
SamplesHGDP00998
Known GenesDMBT1
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)nssv1869164
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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