A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3496042



Internal ID18736997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248599615..248650779hg38UCSC Ensembl
Innerchr1:248762916..248814080hg19UCSC Ensembl
Innerchr1:246829539..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3851165
hg1951165
hg1851165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013857
Supporting Variants
Samples
Known GenesOR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3496042
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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