A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487251



Internal ID19074892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189255731..189578496hg38UCSC Ensembl
Innerchr1:189224862..189547626hg19UCSC Ensembl
Innerchr1:187491485..187814249hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38322766
hg19322765
hg18322765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009494
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3487251
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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