A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2116900



Internal ID17800645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14767040..14779041hg38UCSC Ensembl
Innerchr18:14767039..14779040hg19UCSC Ensembl
Innerchr18:14757039..14769040hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3812002
hg1912002
hg1812002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960264
Supporting Variants
SamplesHGDP00778
Known GenesANKRD30B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2116900
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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