A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007406



Internal ID18749937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103714246..103783855hg38UCSC Ensembl
Innerchr1:104256868..104326477hg19UCSC Ensembl
Innerchr1:104058391..104128000hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3869610
hg1969610
hg1869610
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701130
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)nsv1007406
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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