A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956498



Internal ID17305371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:113545737..113546052hg38UCSC Ensembl
Outerchr5:112881434..112881749hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002134
SamplesBILGI_BIOE
Known GenesYTHDC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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