A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546722



Internal ID15987445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85812632..86425390hg38UCSC Ensembl
Innerchr1:86278315..86891073hg19UCSC Ensembl
Innerchr1:86050903..86663661hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38612759
hg19612759
hg18612759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718474
Samples
Known GenesCLCA2, COL24A1, MIR7856, ODF2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546722
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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