A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054842



Internal ID18797373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21584980..21728953hg38UCSC Ensembl
Innerchr16:21596301..21740274hg19UCSC Ensembl
Innerchr16:21503802..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38143974
hg19143974
hg18143974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2806n100
Supporting Variantsnssv3548144
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)nsv1054842
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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