A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046181



Internal ID18788712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522983..21828019hg38UCSC Ensembl
Innerchr16:21534304..21839340hg19UCSC Ensembl
Innerchr16:21441805..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38305037
hg19305037
hg18305037
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2805n100
Supporting Variantsnssv3548126, nssv3548129, nssv3548130, nssv3719303, nssv3548127, nssv3548132, nssv3719305, nssv3548131, nssv3548125, nssv3548128, nssv3719304
Samples
Known GenesIGSF6, METTL9, OTOA, RRN3P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046181
Frequency
Sample Size29084
Observed Gain7
Observed Loss4
Observed Complex0
Frequencyn/a


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