A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14104580



Internal ID21268813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109307225..109316845hg38UCSC Ensembl
Innerchr2:109923681..109933301hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg389621
hg199621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112074
Supporting Variants
Samplessample130
Known GenesMIR4266, SH3RF3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14104580
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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