A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055192



Internal ID18797723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13780941hg38UCSC Ensembl
Innerchr21:14364519..15153262hg19UCSC Ensembl
Innerchr21:13286390..14075133hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38788744
hg19788744
hg18788744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4378n100
Supporting Variantsnssv3732558
Samples
Known GenesANKRD30BP2, LOC100288966, 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)nsv1055192
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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