A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002080



Internal ID17295032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:13855202..13855505hg38UCSC Ensembl
Outerchr5:13855311..13855614hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv956444
Supporting Variants
SamplesBILGI_BIOE
Known GenesDNAH5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002080
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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