A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547032



Internal ID15987755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103760728hg38UCSC Ensembl
Innerchr1:104146557..104303350hg19UCSC Ensembl
Innerchr1:103948080..104104873hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38156794
hg19156794
hg18156794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719870
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)nsv547032
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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