A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012238



Internal ID18754774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20972870..21040264hg38UCSC Ensembl
Innerchr1:21299363..21366757hg19UCSC Ensembl
Innerchr1:21171950..21239344hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3867395
hg1967395
hg1867395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700854
Samples
Known GenesEIF4G3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012238
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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