A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058246



Internal ID19147465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580129..1617678hg38UCSC Ensembl
Innerchr20:1560775..1598324hg19UCSC Ensembl
Innerchr20:1508775..1546324hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3837550
hg1937550
hg1837550
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233n100
Supporting Variantsnssv3728486, nssv3728483, nssv3728484, nssv3594327, nssv3728485, nssv3594329, nssv3594328
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)nsv1058246
Frequency
Sample Size11257
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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