A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14089213



Internal ID21279631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52491583..52497811hg38UCSC Ensembl
Innerchr6:52356381..52362609hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386229
hg196229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114260
Supporting Variants
Samplessample286
Known GenesEFHC1, TRAM2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14089213
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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