A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049681



Internal ID18792212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48324000..48334539hg38UCSC Ensembl
Innerchr13:48898136..48908675hg19UCSC Ensembl
Innerchr13:47796137..47806676hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3810540
hg1910540
hg1810540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523438
Samples
Known GenesRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049681
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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