A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040594



Internal ID19129813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18471488..18745495hg38UCSC Ensembl
Innerchr13:19045628..19319635hg19UCSC Ensembl
Innerchr13:17943628..18217635hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38274008
hg19274008
hg18274008
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1600n100
Supporting Variantsnssv3712708, nssv3527548, nssv3527545, nssv3527546, nssv3527547, nssv3712707, nssv3714924, nssv3714923
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)nsv1040594
Frequency
Sample Size11257
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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