A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547099



Internal ID15987822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614468..103645686hg38UCSC Ensembl
Innerchr1:104157090..104188308hg19UCSC Ensembl
Innerchr1:103958613..103989831hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3831219
hg1931219
hg1831219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv411n54
Supporting Variantsnssv720053
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547099
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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