A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549239



Internal ID16336648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223445425..223471914hg38UCSC Ensembl
Innerchr1:223618767..223645256hg19UCSC Ensembl
Innerchr1:221685390..221711879hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3826490
hg1926490
hg1826490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737293, nssv737294
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549239
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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