A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006321



Internal ID18748852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103766510hg38UCSC Ensembl
Innerchr1:104163775..104309132hg19UCSC Ensembl
Innerchr1:103965298..104110655hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38145358
hg19145358
hg18145358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv226n100
Supporting Variantsnssv3486811
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006321
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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