A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763595



Internal ID19307856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228038398..228043799hg38UCSC Ensembl
chr1:228226099..228231500hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075807
Supporting Variants
SamplesKWP1
Known GenesWNT3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763595
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