A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012670



Internal ID18755202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103766452hg38UCSC Ensembl
Innerchr1:104178026..104309074hg19UCSC Ensembl
Innerchr1:103979549..104110597hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38131049
hg19131049
hg18131049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225n100
Supporting Variantsnssv3496584
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012670
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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