A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058381



Internal ID19147600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580129..1617448hg38UCSC Ensembl
Innerchr20:1560775..1598094hg19UCSC Ensembl
Innerchr20:1508775..1546094hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3837320
hg1937320
hg1837320
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233n100
Supporting Variantsnssv3594321, nssv3594322, nssv3728479, nssv3728480, nssv3594326, nssv3594324, nssv3594323, nssv3728481, nssv3728482, nssv3594325, nssv3728478
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)nsv1058381
Frequency
Sample Size11257
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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