A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056144



Internal ID19145363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48940621..48978777hg38UCSC Ensembl
Innerchr22:49336433..49374589hg19UCSC Ensembl
Innerchr22:47722437..47760593hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3838157
hg1938157
hg1838157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592300
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056144
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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