A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998548



Internal ID19193909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19597668..19597725hg38UCSC Ensembl
Outerchr2:19797429..19797486hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149762
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998548
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