A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051300



Internal ID19140519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20534503..20579503hg38UCSC Ensembl
Innerchr16:20545825..20590825hg19UCSC Ensembl
Innerchr16:20453326..20498326hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3845001
hg1945001
hg1845001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3548046
Samples
Known GenesACSM2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051300
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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