A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764298



Internal ID19311319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5278207..5278262hg38UCSC Ensembl
chr2:5418340..5418395hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071571
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764298
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