A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2121694



Internal ID17802873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26964409..26981456hg38UCSC Ensembl
Innerchr18:24544373..24561420hg19UCSC Ensembl
Innerchr18:22798371..22815418hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3817048
hg1917048
hg1817048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978623
Supporting Variants
SamplesHGDP00778
Known GenesCHST9
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)nssv2121694
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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