A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765621



Internal ID19309375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148990374..149070112hg38UCSC Ensembl
chr1:144817499..144894100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3879739
hg1976602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076337
Supporting Variants
SamplesKWP1
Known GenesLOC100288142, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765621
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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