A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005941



Internal ID18748472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169441248..169487155hg38UCSC Ensembl
Innerchr1:169410486..169456393hg19UCSC Ensembl
Innerchr1:167677110..167723017hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3845908
hg1945908
hg1845908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501920
Samples
Known GenesSLC19A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005941
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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