A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591435



Internal ID16378844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886607..124887358hg38UCSC Ensembl
Innerchr3:124605454..124606205hg19UCSC Ensembl
Innerchr3:126088144..126088895hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8533n54
Supporting Variantsnssv971816, nssv971818, nssv971820, nssv971819, nssv971817
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591435
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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