A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763594



Internal ID19307596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989576..120097298hg38UCSC Ensembl
chr1:120532199..120639900hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38107723
hg19107702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075781
Supporting Variants
SamplesKWP1
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763594
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