A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040716



Internal ID18783247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83803123..83898387hg38UCSC Ensembl
Innerchr13:84377258..84472522hg19UCSC Ensembl
Innerchr13:83275259..83370523hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3895265
hg1995265
hg1895265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525404
Samples
Known GenesSLITRK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040716
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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