A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060078



Internal ID19149297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580922..1617448hg38UCSC Ensembl
Innerchr20:1561568..1598094hg19UCSC Ensembl
Innerchr20:1509568..1546094hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3836527
hg1936527
hg1836527
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233n100
Supporting Variantsnssv3598993, nssv3599000, nssv3734665, nssv3599002, nssv3734662, nssv3734661, nssv3598996, nssv3598997, nssv3598992, nssv3599001, nssv3734663, nssv3734666, nssv3734664, nssv3598994, nssv3598999, nssv3734667, nssv3598998, nssv3598995
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)nsv1060078
Frequency
Sample Size11257
Observed Gain13
Observed Loss5
Observed Complex0
Frequencyn/a


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