A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524n100



Internal ID22786611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196769481..196832930hg38UCSC Ensembl
chr1:196738611..196802060hg19UCSC Ensembl
chr1:195005234..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863450
hg1963450
hg1863450
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014257, nsv999241, nsv1009300, nsv1013755, nsv1002649, nsv1001446, nsv1009598, nsv1007945, nsv1009246, nsv1008256, nsv1014561, nsv1002470, nsv1011825
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv524n100
Frequency
Sample Size11257
Observed Gain324
Observed Loss549
Observed Complex0
Frequencyn/a


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