A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043639



Internal ID18786170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22333870..22406984hg38UCSC Ensembl
Innerchr16:22345191..22418305hg19UCSC Ensembl
Innerchr16:22252692..22325806hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3873115
hg1973115
hg1873115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2812n100
Supporting Variantsnssv3548170
Samples
Known GenesCDR2, POLR3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043639
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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