A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv165n100



Internal ID22786252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53291070..53385493hg38UCSC Ensembl
chr1:53756742..53851165hg19UCSC Ensembl
chr1:53529330..53623753hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3894424
hg1994424
hg1894424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011078, nsv1006660
Samples
Known GenesLRP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv165n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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