A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549242



Internal ID16336651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223927595..224016216hg38UCSC Ensembl
Innerchr1:224115297..224203918hg19UCSC Ensembl
Innerchr1:222181920..222270541hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3888622
hg1988622
hg1888622
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737299, nssv737302, nssv737300, nssv737301
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549242
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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