A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527122



Internal ID15454415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101349792..101356889hg38UCSC Ensembl
Innerchr12:101743570..101750667hg19UCSC Ensembl
Innerchr12:100267701..100274798hg18UCSC Ensembl
Innerchr12:100246038..100253135hg17UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg387098
hg197098
hg187098
hg177098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703505
Samples
Known GenesUTP20
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527122
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