A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112524



Internal ID21295790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69499909..71013693hg38UCSC Ensembl
Innerchr5:68795736..70309520hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381513785
hg191513785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14109440
Samplessample346
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112524
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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