A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009216



Internal ID18751747
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 StatusM
Merged Variants
Supporting Variantsnssv3502674
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)nsv1009216
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