A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058349



Internal ID19147568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32233140..33086089hg38UCSC Ensembl
Innerchr16:32244461..33097410hg19UCSC Ensembl
Innerchr16:32151962..33004911hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38852950
hg19852950
hg18852950
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2847n100
Supporting Variantsnssv3716336, nssv3550502, nssv3550500, nssv3550501
Samples
Known GenesLOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058349
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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