A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523554



Internal ID15450847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241865799..241933249hg38UCSC Ensembl
Innerchr1:242029101..242096551hg19UCSC Ensembl
Innerchr1:240095724..240163174hg18UCSC Ensembl
Innerchr1:238355142..238422592hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3867451
hg1967451
hg1867451
hg1767451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699332
Samples
Known GenesEXO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523554
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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