A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997842



Internal ID16944108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139294712..139316511hg38UCSC Ensembl
Outerchr5:138630401..138652200hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3821800
hg1921800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950409
Supporting Variants
SamplesBILGI_BIOE
Known GenesMATR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997842
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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