A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055203



Internal ID18797734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33702431..33800698hg38UCSC Ensembl
Innerchr22:34098417..34196685hg19UCSC Ensembl
Innerchr22:32428417..32526685hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3898268
hg1998269
hg1898269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600835, nssv3600834
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055203
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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