A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549245



Internal ID16336654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223995897..224015984hg38UCSC Ensembl
Innerchr1:224183599..224203686hg19UCSC Ensembl
Innerchr1:222250222..222270309hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3820088
hg1920088
hg1820088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv827n54
Supporting Variantsnssv737305
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549245
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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