A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764130



Internal ID18964521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84231116..84233617hg38UCSC Ensembl
chr1:84696799..84699300hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076323
Supporting Variants
SamplesKWP1
Known GenesPRKACB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764130
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