A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062500



Internal ID18805031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14248070..14284786hg38UCSC Ensembl
Innerchr21:15620391..15657107hg19UCSC Ensembl
Innerchr21:14542262..14578978hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3836717
hg1936717
hg1836717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4389n100
Supporting Variantsnssv3586460, nssv3586459
Samples
Known GenesABCC13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062500
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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