A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073172



Internal ID19326448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18401849..18402638hg38UCSC Ensembl
chr6:18402080..18402869hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768096
SamplesKWP1
Known GenesRNF144B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073172
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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