A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958958



Internal ID19225341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120814501..120840341hg38UCSC Ensembl
Outerchr1:148004800..148025900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3825841
hg1921101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118451
Supporting Variants
SamplesKWS1
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958958
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer