A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952528



Internal ID16954715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25247363..25253262hg38UCSC Ensembl
Outerchr13:25821501..25827400hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998196
SamplesBILGI_BIOE
Known GenesMTMR6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952528
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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