A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv467n100



Internal ID20152083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176469087..176506044hg38UCSC Ensembl
chr1:176438223..176475180hg19UCSC Ensembl
chr1:174704846..174741803hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3836958
hg1936958
hg1836958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997504, nsv1009108
Samples
Known GenesPAPPA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv467n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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