A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078784



Internal ID19319923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66762915..66762970hg38UCSC Ensembl
Outerchr2:66990047..66990102hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763764
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078784
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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