A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549069



Internal ID15989792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206684741..206685491hg38UCSC Ensembl
Innerchr1:206858086..206858836hg19UCSC Ensembl
Innerchr1:204924709..204925459hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734983
Samples
Known GenesMAPKAPK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549069
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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