A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052766



Internal ID18795297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5041397..5146885hg38UCSC Ensembl
Innerchr16:5091398..5196886hg19UCSC Ensembl
Innerchr16:5031399..5136887hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38105489
hg19105489
hg18105489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556978
Samples
Known GenesALG1, C16orf89, FAM86A, NAGPA-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052766
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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