A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547029



Internal ID15987752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103645987hg38UCSC Ensembl
Innerchr1:104146557..104188609hg19UCSC Ensembl
Innerchr1:103948080..103990132hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3842053
hg1942053
hg1842053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv407n54
Supporting Variantsnssv719866
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547029
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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