A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056643



Internal ID18799174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13775809hg38UCSC Ensembl
Innerchr21:14452850..15148130hg19UCSC Ensembl
Innerchr21:13374721..14070001hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38695281
hg19695281
hg18695281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4379n100
Supporting Variantsnssv3585265
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)nsv1056643
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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