A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030289



Internal ID18772820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26428086..26463789hg38UCSC Ensembl
Innerchr6:26428314..26464017hg19UCSC Ensembl
Innerchr6:26536293..26571996hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3835704
hg1935704
hg1835704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5927n100
Supporting Variantsnssv3654847, nssv3749048, nssv3654848, nssv3654850, nssv3654849, nssv3654851
Samples
Known GenesBTN2A1, BTN2A3P, BTN3A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030289
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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