A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051728



Internal ID18794259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23968612..24010630hg38UCSC Ensembl
Innerchr13:24542751..24584769hg19UCSC Ensembl
Innerchr13:23440751..23482769hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3842019
hg1942019
hg1842019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714949
Samples
Known GenesSPATA13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051728
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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