A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111409



Internal ID17832503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2842270..2843570hg38UCSC Ensembl
Innerchr18:2842268..2843568hg19UCSC Ensembl
Innerchr18:2832268..2833568hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381301
hg191301
hg181301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978593
Supporting Variants
SamplesHGDP00998
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)nssv2111409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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