A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523448



Internal ID15104055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107704231..107706157hg38UCSC Ensembl
Innerchr1:108246853..108248779hg19UCSC Ensembl
Innerchr1:108048376..108050302hg18UCSC Ensembl
Innerchr1:107958895..107960821hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381927
hg191927
hg181927
hg171927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699205
Samples
Known GenesVAV3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523448
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