A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547056



Internal ID15987779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103637803hg38UCSC Ensembl
Innerchr1:104153865..104180425hg19UCSC Ensembl
Innerchr1:103955388..103981948hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3826561
hg1926561
hg1826561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv419n54
Supporting Variantsnssv719984
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547056
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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