A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720093



Internal ID15667363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103624903..103668312hg38UCSC Ensembl
Innerchr1:104167525..104210934hg19UCSC Ensembl
Innerchr1:103969048..104012457hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3843410
hg1943410
hg1843410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547128
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)nssv720093
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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