A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997686



Internal ID16943952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1380586..1414985hg38UCSC Ensembl
Outerchr5:1380701..1415100hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3834400
hg1934400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950628
Supporting Variants
SamplesBILGI_BIOE
Known GenesSLC6A3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997686
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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