A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544941



Internal ID15985664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1028586..1029058hg38UCSC Ensembl
Innerchr1:963966..964438hg19UCSC Ensembl
Innerchr1:953829..954301hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38473
hg19473
hg18473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n54
Supporting Variantsnssv708482, nssv708468, nssv708473, nssv708471, nssv708480, nssv708479, nssv708475, nssv708461, nssv708478, nssv708466, nssv708469, nssv708481, nssv708472, nssv708467, nssv708463, nssv708470, nssv708474, nssv708465, nssv708464, nssv708477, nssv708476, nssv708462
Samples
Known GenesAGRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544941
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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