A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544904



Internal ID15985627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:929558..934877hg38UCSC Ensembl
Innerchr1:864938..870257hg19UCSC Ensembl
Innerchr1:854801..860120hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385320
hg195320
hg185320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv707689, nssv707688
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544904
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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