A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv583n100



Internal ID22786670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232457582..232493729hg38UCSC Ensembl
chr1:232593328..232629475hg19UCSC Ensembl
chr1:230659951..230696098hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3836148
hg1936148
hg1836148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009996, nsv1011438, nsv1009845
Samples
Known GenesSIPA1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv583n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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