A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114444



Internal ID17804373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11609859..11644047hg38UCSC Ensembl
Innerchr18:11609858..11644046hg19UCSC Ensembl
Innerchr18:11599858..11634046hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3834189
hg1934189
hg1834189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962488
Supporting Variants
SamplesHGDP00778
Known GenesSLC35G4
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)nssv2114444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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