A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3547115



Internal ID18498710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20425808..20489701hg38UCSC Ensembl
Innerchr16:20437130..20501023hg19UCSC Ensembl
Innerchr16:20344631..20408524hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3863894
hg1963894
hg1863894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1051811
Supporting Variants
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)nssv3547115
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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