A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069404



Internal ID19322128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234478353..234479054hg38UCSC Ensembl
chr1:234614099..234614800hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769894
SamplesKWP1
Known GenesTARBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069404
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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