A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2127145



Internal ID17488391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76829017..76838451hg38UCSC Ensembl
Innerchr18:74540973..74550407hg19UCSC Ensembl
Innerchr18:72669961..72679395hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389435
hg199435
hg189435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960288
Supporting Variants
SamplesHGDP00998
Known GenesZNF236
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)nssv2127145
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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