A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546849



Internal ID15987572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94007258..94011676hg38UCSC Ensembl
Innerchr1:94472814..94477232hg19UCSC Ensembl
Innerchr1:94245402..94249820hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg384419
hg194419
hg184419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719613
Samples
Known GenesABCA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546849
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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