A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772501



Internal ID19312455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228608552..228647753hg38UCSC Ensembl
chr1:228744299..228783500hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3839202
hg1939202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075809
Supporting Variants
SamplesKWP1
Known GenesDUSP5P1, RHOU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772501
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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