A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004240



Internal ID19093457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101895054..101962788hg38UCSC Ensembl
Innerchr1:102360610..102428344hg19UCSC Ensembl
Innerchr1:102133198..102200932hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3867735
hg1967735
hg1867735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv209n100
Supporting Variantsnssv3468189
Samples
Known GenesMIR548AI, OLFM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004240
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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