A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119021



Internal ID18934574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1212985..1213585hg38UCSC Ensembl
Outerchr5:1213100..1213700hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981816
SamplesKWS1
Known GenesSLC6A19
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119021
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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