A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066559



Internal ID19155778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13160217hg38UCSC Ensembl
Innerchr21:14364519..14532538hg19UCSC Ensembl
Innerchr21:13286390..13454409hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38168020
hg19168020
hg18168020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4375n100
Supporting Variantsnssv3585230, nssv3585231
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066559
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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