A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3475140



Internal ID18719651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103717605hg38UCSC Ensembl
Innerchr1:104109226..104260227hg19UCSC Ensembl
Innerchr1:103910749..104061750hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38151002
hg19151002
hg18151002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007226
Supporting Variants
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3475140
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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