A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055181



Internal ID19144400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48877467..48935200hg38UCSC Ensembl
Innerchr22:49273279..49331012hg19UCSC Ensembl
Innerchr22:47659283..47717016hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3857734
hg1957734
hg1857734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592297
Samples
Known GenesLOC100128946
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055181
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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