A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv894821



Internal ID15842091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14089297..14091495hg38UCSC Ensembl
Innerchr19:14200109..14202307hg19UCSC Ensembl
Innerchr19:14061109..14063307hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv578650
Supporting Variants
Samples
Known GenesSAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv894821
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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