A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600815



Internal ID18552410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32004579..32057060hg38UCSC Ensembl
Innerchr22:32400566..32453047hg19UCSC Ensembl
Innerchr22:30730566..30783047hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3852482
hg1952482
hg1852482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065893
Supporting Variants
Samples
Known GenesSLC5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600815
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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