A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059401



Internal ID18801932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13762048hg38UCSC Ensembl
Innerchr21:14452850..15134369hg19UCSC Ensembl
Innerchr21:13374721..14056240hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38681520
hg19681520
hg18681520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4379n100
Supporting Variantsnssv3732560
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059401
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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