A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062558



Internal ID19151777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13775809hg38UCSC Ensembl
Innerchr21:14594223..15148130hg19UCSC Ensembl
Innerchr21:13516094..14070001hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38553908
hg19553908
hg18553908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3585299, nssv3732584, nssv3732586, nssv3732582, nssv3732581, nssv3585298, nssv3732583, nssv3585301, nssv3585300, nssv3732585
Samples
Known GenesLOC100288966, 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)nsv1062558
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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