A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2116809



Internal ID17783900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14747930..14767040hg38UCSC Ensembl
Innerchr18:14747929..14767039hg19UCSC Ensembl
Innerchr18:14737929..14757039hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3819111
hg1919111
hg1819111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960263
Supporting Variants
SamplesHGDP00665
Known GenesANKRD30B
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)nssv2116809
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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