A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2124367



Internal ID17821708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57835906..57840019hg38UCSC Ensembl
Innerchr18:55503138..55507251hg19UCSC Ensembl
Innerchr18:53654136..53658249hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg384114
hg194114
hg184114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978633
Supporting Variants
SamplesHGDP00927
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)nssv2124367
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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