A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517494



Internal ID15098101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126610956..126614956hg38UCSC Ensembl
Innerchr9:129373235..129377235hg19UCSC Ensembl
Innerchr9:128413056..128417056hg18UCSC Ensembl
Innerchr9:126452789..126456789hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
hg174001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675616, nssv688475, nssv652188, nssv656793, nssv671385
Samples
Known GenesLMX1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517494
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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