A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049448



Internal ID19138667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70161932..70201627hg38UCSC Ensembl
Innerchr13:70736064..70775759hg19UCSC Ensembl
Innerchr13:69634065..69673760hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3839696
hg1939696
hg1839696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1712n100
Supporting Variantsnssv3529323, nssv3529320, nssv3713225, nssv3529321, nssv3713227, nssv3713226, nssv3529322
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049448
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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