A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550805



Internal ID15991528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47540486..47656927hg38UCSC Ensembl
Innerchr10:48939923..49055894hg19UCSC Ensembl
Innerchr10:48559929..48675900hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38116442
hg19115972
hg18115972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747645
Samples
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550805
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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