A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2125461



Internal ID17848818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58017493..58019657hg38UCSC Ensembl
Innerchr18:55684725..55686889hg19UCSC Ensembl
Innerchr18:53835723..53837887hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382165
hg192165
hg182165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960281
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)nssv2125461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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