A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523130



Internal ID18474725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20222652..20530273hg38UCSC Ensembl
Innerchr13:20796791..21104412hg19UCSC Ensembl
Innerchr13:19694791..20002412hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38307622
hg19307622
hg18307622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050666
Supporting Variants
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)nssv3523130
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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