A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139273



Internal ID19284268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:75626633..75626689hg38UCSC Ensembl
Outerchr4:76551817..76551873hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991895
SamplesKWS2
Known GenesCDKL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139273
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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