A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv719868



Internal ID15667138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103747594hg38UCSC Ensembl
Innerchr1:104146557..104290216hg19UCSC Ensembl
Innerchr1:103948080..104091739hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38143660
hg19143660
hg18143660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547030
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv719868
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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