A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073383



Internal ID18977462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155733561..155736439hg38UCSC Ensembl
chr4:156654713..156657591hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg382879
hg192879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764216
SamplesKWP1
Known GenesGUCY1A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073383
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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