A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv396n100



Internal ID22786483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143664689..143942259hg38UCSC Ensembl
chr1:149159329..149436830hg19UCSC Ensembl
chr1:147425953..147703454hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38277571
hg19277502
hg18277502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002220, nsv999562, nsv997870, nsv999424, nsv1003842, nsv1003132
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv396n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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