A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3253



Internal ID15547844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1566446..1623186hg38UCSC Ensembl
Outerchr20:1547092..1603832hg19UCSC Ensembl
Outerchr20:1495092..1551832hg18UCSC Ensembl
Outerchr20:1495092..1551832hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3856741
hg1956741
hg1856741
hg1756741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9593, nssv11034, nssv9362, nssv2323, nssv5861, nssv10279, nssv4516, nssv6922, nssv1583
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesSIRPB1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3253
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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