A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114808



Internal ID17771835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9522158..9522658hg38UCSC Ensembl
Innerchr18:9522156..9522656hg19UCSC Ensembl
Innerchr18:9512156..9512656hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978599
Supporting Variants
SamplesHGDP00542
Known GenesRALBP1
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)nssv2114808
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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