A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520538



Internal ID15101145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14242899..14288218hg38UCSC Ensembl
Innerchr21:15615220..15660539hg19UCSC Ensembl
Innerchr21:14537091..14582410hg18UCSC Ensembl
Innerchr21:14537091..14582410hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3845320
hg1945320
hg1845320
hg1745320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683210, nssv684758, nssv672267
Samples
Known GenesABCC13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520538
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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