A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2119955



Internal ID17442566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23705036..23710594hg38UCSC Ensembl
Innerchr18:21285000..21290558hg19UCSC Ensembl
Innerchr18:19538998..19544556hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg385559
hg195559
hg185559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978622
Supporting Variants
SamplesHGDP00665
Known GenesLAMA3
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)nssv2119955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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