A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502674



Internal ID18454269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248779686..248821268hg38UCSC Ensembl
Innerchr1:249073885..249115467hg19UCSC Ensembl
Innerchr1:247040508..247082090hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3841583
hg1941583
hg1841583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009216
Supporting Variants
Samples
Known GenesSH3BP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502674
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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