A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002170



Internal ID17295122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1238420..1238726hg38UCSC Ensembl
Outerchr5:1238535..1238841hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955857
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC6A18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002170
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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