A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046952



Internal ID18789483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20419446..20467505hg38UCSC Ensembl
Innerchr16:20430768..20478827hg19UCSC Ensembl
Innerchr16:20338269..20386328hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3848060
hg1948060
hg1848060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3547114
Samples
Known GenesACSM2A, ACSM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046952
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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