A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2121773



Internal ID17730160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:39333747..39336035hg38UCSC Ensembl
Innerchr18:36913711..36915999hg19UCSC Ensembl
Innerchr18:35167709..35169997hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382289
hg192289
hg182289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962876
Supporting Variants
SamplesHGDP00456
Known GenesLINC00669
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)nssv2121773
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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