A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544924



Internal ID15985647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:934170..938178hg38UCSC Ensembl
Innerchr1:869550..873558hg19UCSC Ensembl
Innerchr1:859413..863421hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384009
hg194009
hg184009
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708371, nssv708369, nssv708368, nssv708372, nssv708370, nssv708373
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544924
Frequency
Sample Size17421
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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