A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489246



Internal ID18730201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103616713..103716810hg38UCSC Ensembl
Innerchr1:104159335..104259432hg19UCSC Ensembl
Innerchr1:103960858..104060955hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38100098
hg19100098
hg18100098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011120
Supporting Variants
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)nssv3489246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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