A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057249



Internal ID18799780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10338676..10448879hg38UCSC Ensembl
Innerchr21:11063578..11173781hg19UCSC Ensembl
Innerchr21:10085449..10195652hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38110204
hg19110204
hg18110204
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4373n100
Supporting Variantsnssv3585202, nssv3732556, nssv3585203, nssv3585199, nssv3585198, nssv3585197, nssv3585200, nssv3732555, nssv3585201
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057249
Frequency
Sample Size29084
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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