A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766627



Internal ID19305151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68251667..68252968hg38UCSC Ensembl
chr2:68478799..68480100hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072948
Supporting Variants
SamplesKWP1
Known GenesPPP3R1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766627
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