A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109100



Internal ID18927851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62590283..62590356hg38UCSC Ensembl
Outerchr17:60667644..60667717hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954945
SamplesKWS1
Known GenesTLK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109100
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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