A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600829



Internal ID18552424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33426240..33763549hg38UCSC Ensembl
Innerchr22:33822226..34159536hg19UCSC Ensembl
Innerchr22:32152226..32489536hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38337310
hg19337311
hg18337311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055791
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1, MIR4764
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600829
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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