A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519552



Internal ID15100159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24451028..24524476hg38UCSC Ensembl
Innerchr6:24451256..24524704hg19UCSC Ensembl
Innerchr6:24559235..24632683hg18UCSC Ensembl
Innerchr6:24559235..24632683hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3873449
hg1973449
hg1873449
hg1773449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696916
Samples
Known GenesALDH5A1, GPLD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519552
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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