A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046329



Internal ID19135548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31185798..31502655hg38UCSC Ensembl
Innerchr11:31207345..31524202hg19UCSC Ensembl
Innerchr11:31163921..31480778hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38316858
hg19316858
hg18316858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512842
Samples
Known GenesDCDC1, DNAJC24, IMMP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046329
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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