A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045685



Internal ID18788216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21590395..21759413hg38UCSC Ensembl
Innerchr16:21601716..21770734hg19UCSC Ensembl
Innerchr16:21509217..21678235hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38169019
hg19169019
hg18169019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2809n100
Supporting Variantsnssv3548158
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)nsv1045685
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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