A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053021



Internal ID18795552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:13408051..13555268hg38UCSC Ensembl
Innerchr11:13429598..13576815hg19UCSC Ensembl
Innerchr11:13386174..13533391hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38147218
hg19147218
hg18147218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521423
Samples
Known GenesBTBD10, PTH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053021
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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