A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062117



Internal ID19151336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1579594..1617678hg38UCSC Ensembl
Innerchr20:1560240..1598324hg19UCSC Ensembl
Innerchr20:1508240..1546324hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3838085
hg1938085
hg1838085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4230n100
Supporting Variantsnssv3591537, nssv3591538, nssv3728379
Samples
Known GenesSIRPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062117
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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