A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547028



Internal ID15987751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103618643hg38UCSC Ensembl
Innerchr1:104146557..104161265hg19UCSC Ensembl
Innerchr1:103948080..103962788hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3814709
hg1914709
hg1814709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719864, nssv719865
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547028
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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