A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2807n100



Internal ID20154423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21557869..21828019hg38UCSC Ensembl
chr16:21569190..21839340hg19UCSC Ensembl
chr16:21476691..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38270151
hg19270151
hg18270151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048526, nsv1035263, nsv1050304, nsv1038767, nsv1054818
Samples
Known GenesIGSF6, METTL9, OTOA, RRN3P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2807n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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