A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074510



Internal ID18971747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3299935..3300336hg38UCSC Ensembl
chr1:3216499..3216900hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772223
SamplesKWP1
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074510
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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