A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981816



Internal ID18868718
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 StatusS
Merged Variantsnsv1119021
Supporting Variants
SamplesKWS1
Known GenesSLC6A19
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981816
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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