A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059203



Internal ID19148422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32135553..32603585hg38UCSC Ensembl
Innerchr16:32146874..32614906hg19UCSC Ensembl
Innerchr16:32054375..32522407hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38468033
hg19468033
hg18468033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2850n100
Supporting Variantsnssv3550279
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059203
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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