A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517567



Internal ID15098174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149180324..149193087hg38UCSC Ensembl
Innerchr5:148559887..148572650hg19UCSC Ensembl
Innerchr5:148540080..148552843hg18UCSC Ensembl
Innerchr5:148540080..148552843hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3812764
hg1912764
hg1812764
hg1712764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690525, nssv687076, nssv652385
Samples
Known GenesABLIM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517567
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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