A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060254



Internal ID18802785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13765257hg38UCSC Ensembl
Innerchr21:14452850..15137578hg19UCSC Ensembl
Innerchr21:13374721..14059449hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38684729
hg19684729
hg18684729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4379n100
Supporting Variantsnssv3732561
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)nsv1060254
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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