A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549398



Internal ID16336807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236128593..236146724hg38UCSC Ensembl
Innerchr1:236291893..236310024hg19UCSC Ensembl
Innerchr1:234358516..234376647hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3818132
hg1918132
hg1818132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174061
Samples1780862101_A
Known GenesGPR137B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549398
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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