A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052153



Internal ID18794684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21584980..21775408hg38UCSC Ensembl
Innerchr16:21596301..21786729hg19UCSC Ensembl
Innerchr16:21503802..21694230hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38190429
hg19190429
hg18190429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2809n100
Supporting Variantsnssv3548152
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052153
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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