A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv572n100



Internal ID20152188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212856472..212899671hg38UCSC Ensembl
chr1:213029814..213073013hg19UCSC Ensembl
chr1:211096437..211139636hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3843200
hg1943200
hg1843200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998261, nsv998979
Samples
Known GenesFLVCR1, FLVCR1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv572n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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