A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv530n100



Internal ID22786617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196769640..196801995hg38UCSC Ensembl
chr1:196738770..196771125hg19UCSC Ensembl
chr1:195005393..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3832356
hg1932356
hg1832356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998696, nsv1002244, nsv1009650, nsv1012108, nsv1007542, nsv1004699, nsv997371, nsv1007336, nsv1012849
Samples
Known GenesCFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv530n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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