A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528119



Internal ID15108726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132174775..132218324hg38UCSC Ensembl
Innerchr12:132659320..132702869hg19UCSC Ensembl
Innerchr12:131225273..131268822hg18UCSC Ensembl
Innerchr12:131325550..131369099hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843550
hg1943550
hg1843550
hg1743550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704662
Samples
Known GenesGALNT9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528119
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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