A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043348



Internal ID18785879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113756321..113867896hg38UCSC Ensembl
Innerchr13:114459294..114570869hg19UCSC Ensembl
Innerchr13:113543074..113654837hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38111576
hg19111576
hg18111764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713324, nssv3525639
Samples
Known GenesGAS6, GAS6-AS1, GAS6-AS2, TMEM255B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043348
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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