A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074888



Internal ID19317043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173597396..173598197hg38UCSC Ensembl
chr5:173024399..173025200hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766873
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074888
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