A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003250



Internal ID18844036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38807227..38808684hg38UCSC Ensembl
Outerchr17:36963480..36964937hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153975
Supporting Variants
SamplesKWB1
Known GenesCWC25
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003250
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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