A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056542



Internal ID18799073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36109645..36247204hg38UCSC Ensembl
Innerchr21:37481943..37619502hg19UCSC Ensembl
Innerchr21:36403813..36541372hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38137560
hg19137560
hg18137560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4427n100
Supporting Variantsnssv3600166, nssv3600167, nssv3732705, nssv3732706, nssv3600169, nssv3600168
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)nsv1056542
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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