A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549459



Internal ID16336868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241033035..241052440hg38UCSC Ensembl
Innerchr1:241196335..241215740hg19UCSC Ensembl
Innerchr1:239262958..239282363hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3819406
hg1919406
hg1819406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739141, nssv739140, nssv739139
Samples
Known GenesRGS7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549459
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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