A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv163n100



Internal ID22786250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49438952..49536563hg38UCSC Ensembl
chr1:49904624..50002235hg19UCSC Ensembl
chr1:49677211..49774822hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3897612
hg1997612
hg1897612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003305, nsv1000637, nsv1007050, nsv1004945, nsv1003675, nsv1013808, nsv1008707, nsv1001600, nsv1011252, nsv1008066, nsv1001653, nsv1008622, nsv1006935, nsv1009003, nsv1013864, nsv1003763, nsv1001636
Samples
Known GenesAGBL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv163n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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