A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549221



Internal ID16336630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218970256..219009282hg38UCSC Ensembl
Innerchr1:219143598..219182624hg19UCSC Ensembl
Innerchr1:217210221..217249247hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3839027
hg1939027
hg1839027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736994
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549221
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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