A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059325



Internal ID18801856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13703148hg38UCSC Ensembl
Innerchr21:14452850..15075469hg19UCSC Ensembl
Innerchr21:13374721..13997340hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38622620
hg19622620
hg18622620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4377n100
Supporting Variantsnssv3585263
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059325
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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