A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000083



Internal ID18848082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75546622..75546797hg38UCSC Ensembl
Outerchr17:73542703..73542878hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147313
Supporting Variants
SamplesKWB1
Known GenesLLGL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000083
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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