A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600178



Internal ID18551773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36117592..36244890hg38UCSC Ensembl
Innerchr21:37489890..37617188hg19UCSC Ensembl
Innerchr21:36411760..36539058hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38127299
hg19127299
hg18127299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066948
Supporting Variants
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600178
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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