A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052854



Internal ID18795385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20224101..20530273hg38UCSC Ensembl
Innerchr13:20798240..21104412hg19UCSC Ensembl
Innerchr13:19696240..20002412hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38306173
hg19306173
hg18306173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1612n100
Supporting Variantsnssv3523133
Samples
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052854
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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