A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591438



Internal ID16378847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886607..124887513hg38UCSC Ensembl
Innerchr3:124605454..124606360hg19UCSC Ensembl
Innerchr3:126088144..126089050hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38907
hg19907
hg18907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8534n54
Supporting Variantsnssv971828, nssv971835, nssv971827, nssv971831, nssv971829, nssv971832, nssv971826, nssv971833, nssv971830, nssv971836, nssv971834
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591438
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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