A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14106751



Internal ID21284671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231707073..231711229hg38UCSC Ensembl
Innerchr2:232571783..232575939hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384157
hg194157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113781
Supporting Variants
Samplessample363
Known GenesPTMA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14106751
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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