A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075181



Internal ID19316688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144351643..144352782hg38UCSC Ensembl
chr8:145575308..145576442hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381140
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769139
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075181
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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