A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762899



Internal ID19313663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206245552..206250153hg38UCSC Ensembl
chr1:206091199..206095800hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075402
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762899
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