A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582794



Internal ID18534389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134453997..134468413hg38UCSC Ensembl
Innerchr2:135211568..135225984hg19UCSC Ensembl
Innerchr2:134928038..134942454hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3814417
hg1914417
hg1814417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004271
Supporting Variants
Samples
Known GenesMGAT5, TMEM163
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582794
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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