A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547041



Internal ID15987764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611144..103618643hg38UCSC Ensembl
Innerchr1:104153766..104161265hg19UCSC Ensembl
Innerchr1:103955289..103962788hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415n54
Supporting Variantsnssv719891, nssv719893, nssv719892, nssv719894
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547041
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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