A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv548n100



Internal ID22786635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196820420..196832513hg38UCSC Ensembl
chr1:196789550..196801643hg19UCSC Ensembl
chr1:195056173..195068266hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3812094
hg1912094
hg1812094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000933, nsv999709
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv548n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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