A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521149



Internal ID15101756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7604110..7684392hg38UCSC Ensembl
Innerchr12:7756706..7836988hg19UCSC Ensembl
Innerchr12:7647973..7728255hg18UCSC Ensembl
Innerchr12:7647973..7728255hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3880283
hg1980283
hg1880283
hg1780283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697815
Samples
Known GenesAPOBEC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521149
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