A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548048



Internal ID18499643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20544152..20718628hg38UCSC Ensembl
Innerchr16:20555474..20729950hg19UCSC Ensembl
Innerchr16:20462975..20637451hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38174477
hg19174477
hg18174477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053656
Supporting Variants
Samples
Known GenesACSM1, ACSM2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3548048
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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