A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2125075



Internal ID17418743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51027172..51029605hg38UCSC Ensembl
Innerchr18:48553542..48555975hg19UCSC Ensembl
Innerchr18:46807540..46809973hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382434
hg192434
hg182434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962881
Supporting Variants
SamplesHGDP00542
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)nssv2125075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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