A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057178



Internal ID18799709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45384898..45428463hg38UCSC Ensembl
Innerchr20:44013538..44057103hg19UCSC Ensembl
Innerchr20:43446952..43490517hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3843566
hg1943566
hg1843566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4319n100
Supporting Variantsnssv3584837
Samples
Known GenesDBNDD2, MIR6812, PIGT, SYS1-DBNDD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057178
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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