A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2121730



Internal ID17850534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:44318941..44322528hg38UCSC Ensembl
Innerchr18:41898906..41902493hg19UCSC Ensembl
Innerchr18:40152904..40156491hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383588
hg193588
hg183588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978627
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)nssv2121730
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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