A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057100



Internal ID19146319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13231256hg38UCSC Ensembl
Innerchr21:14364519..14603577hg19UCSC Ensembl
Innerchr21:13286390..13525448hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38239059
hg19239059
hg18239059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585249, nssv3585247, nssv3585248, nssv3585250
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)nsv1057100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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