A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056791



Internal ID18799322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27189072..27224774hg38UCSC Ensembl
Innerchr16:27200393..27236095hg19UCSC Ensembl
Innerchr16:27107894..27143596hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3835703
hg1935703
hg1835703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2828n100
Supporting Variantsnssv3549139
Samples
Known GenesKDM8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056791
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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