A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544923



Internal ID15985646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:934170..935265hg38UCSC Ensembl
Innerchr1:869550..870645hg19UCSC Ensembl
Innerchr1:859413..860508hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n54
Supporting Variantsnssv708364, nssv708354, nssv708348, nssv708357, nssv708353, nssv708351, nssv708361, nssv708365, nssv708355, nssv708359, nssv708367, nssv708362, nssv708347, nssv708349, nssv708350, nssv708356, nssv708360, nssv708363, nssv708352, nssv708366, nssv708358
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544923
Frequency
Sample Size17421
Observed Gain2
Observed Loss19
Observed Complex0
Frequencyn/a


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