A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054001



Internal ID19143220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18471488..18737640hg38UCSC Ensembl
Innerchr13:19045628..19311780hg19UCSC Ensembl
Innerchr13:17943628..18209780hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38266153
hg19266153
hg18266153
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1600n100
Supporting Variantsnssv3527544, nssv3526435, nssv3527543
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)nsv1054001
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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