A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518223



Internal ID15098830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230274416..230281548hg38UCSC Ensembl
Innerchr1:230410162..230417294hg19UCSC Ensembl
Innerchr1:228476785..228483917hg18UCSC Ensembl
Innerchr1:226716897..226724029hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387133
hg197133
hg187133
hg177133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695647
Samples
Known GenesGALNT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518223
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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