A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996036



Internal ID15234896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611912..103769127hg38UCSC Ensembl
Innerchr1:104154534..104311749hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38157216
hg19157216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv483008
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996036
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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