A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521987



Internal ID15449280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30231678..30231855hg38UCSC Ensembl
Innerchr13:30805815..30805992hg19UCSC Ensembl
Innerchr13:29703815..29703992hg18UCSC Ensembl
Innerchr13:29703815..29703992hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
hg17178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694754
Samples
Known GenesKATNAL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521987
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