A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515654



Internal ID15443265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13268079..13903660hg38UCSC Ensembl
Innerchr21:14640400..15275981hg19UCSC Ensembl
Innerchr21:13562271..14197852hg18UCSC Ensembl
Innerchr21:13562271..14197852hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38635582
hg19635582
hg18635582
hg17635582
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657722, nssv660336, nssv695323, nssv664258, nssv679320, nssv660995, nssv672081, nssv683978, nssv694124, nssv660399, nssv662278, nssv676715, nssv700291, nssv682575, nssv684368
Samples
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515654
Frequency
Sample Size2026
Observed Gain5
Observed Loss10
Observed Complex0
Frequencyn/a


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