A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074864



Internal ID19320064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114123327..114123664hg38UCSC Ensembl
chr5:113459024..113459361hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762780
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074864
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer