A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123093



Internal ID19275651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7600034..7600096hg38UCSC Ensembl
Outerchr17:7503352..7503414hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972068
SamplesKWS2
Known GenesFXR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123093
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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