A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3056n100



Internal ID20154672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83923502..84039073hg38UCSC Ensembl
chr16:83957107..84072678hg19UCSC Ensembl
chr16:82514608..82630179hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38115572
hg19115572
hg18115572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060410, nsv1061310
Samples
Known GenesNECAB2, OSGIN1, SLC38A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3056n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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