A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046291



Internal ID18788822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110473400..110605514hg38UCSC Ensembl
Innerchr13:111125747..111257861hg19UCSC Ensembl
Innerchr13:109923748..110055862hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38132115
hg19132115
hg18132115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525580
Samples
Known GenesCOL4A2, COL4A2-AS1, RAB20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046291
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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