A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250984



Internal ID21311245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194514736..194557420hg38UCSC Ensembl
Outerchr3:194512809..194564784hg38UCSC Ensembl
Innerchr3:194235465..194278149hg19UCSC Ensembl
Outerchr3:194233538..194285513hg19UCSC Ensembl
Innerchr3:195716754..195759438hg18UCSC Ensembl
Outerchr3:195714827..195766802hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851976
hg1951976
hg1851976
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169947
Supporting Variants
SamplesPML_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250984
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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