A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1732



Internal ID15199609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84033415..84078952hg38UCSC Ensembl
Outerchr1:84499098..84544635hg19UCSC Ensembl
Outerchr1:84271686..84317223hg18UCSC Ensembl
Outerchr1:84211119..84256656hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3845538
hg1945538
hg1845538
hg1745538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1234, nssv10090, nssv2200, nssv6738, nssv9965, nssv5702
SamplesNA18507, NA18956, NA19129, NA12156, NA19240, NA18555
Known GenesPRKACB
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)nsv1732
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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