A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057794



Internal ID18800325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90033163..90221115hg38UCSC Ensembl
Innerchr16:90099571..90287523hg19UCSC Ensembl
Innerchr16:88627072..88815024hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38187953
hg19187953
hg18187953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3067n100
Supporting Variantsnssv3560016
Samples
Known GenesGAS8, PRDM7, URAHP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057794
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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