A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062926



Internal ID18805457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32828718..32904288hg38UCSC Ensembl
Innerchr19:33319624..33395194hg19UCSC Ensembl
Innerchr19:38011464..38087034hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3875571
hg1975571
hg1875571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3566575
Samples
Known GenesCEP89, SLC7A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062926
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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