A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054429



Internal ID19143648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18561139..18745495hg38UCSC Ensembl
Innerchr13:19135279..19319635hg19UCSC Ensembl
Innerchr13:18033279..18217635hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38184357
hg19184357
hg18184357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3527552
Samples
Known GenesLINC00417
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054429
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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