A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483008



Internal ID15235482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611912..103769127hg38UCSC Ensembl
Innerchr1:104154534..104311749hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38157216
hg19157216
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996296, nssv2996399, nssv2995954, nssv2996166, nssv2996355, nssv2996245, nssv2996206, nssv2996426, nssv2995966, nssv2996188, nssv2996193, nssv2995930, nssv2995957, nssv2995940, nssv2996427, nssv2996276, nssv2996495, nssv2996299, nssv2996279, nssv2996105, nssv2996242, nssv2996222, nssv2996383, nssv2996095, nssv2996160, nssv2996036, nssv2996008
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483008
Frequency
Sample Size39
Observed Gain13
Observed Loss14
Observed Complex0
Frequencyn/a


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