A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2116725



Internal ID17861750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14736805..14747930hg38UCSC Ensembl
Innerchr18:14736804..14747929hg19UCSC Ensembl
Innerchr18:14726804..14737929hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3811126
hg1911126
hg1811126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962498
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2116725
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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