A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549207



Internal ID16336616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217159930..217282561hg38UCSC Ensembl
Innerchr1:217333272..217455903hg19UCSC Ensembl
Innerchr1:215399895..215522526hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38122632
hg19122632
hg18122632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736968
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549207
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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