A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5343



Internal ID15203457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248392693..248417010hg38UCSC Ensembl
Outerchr1:248555994..248580311hg19UCSC Ensembl
Outerchr1:246622617..246646934hg18UCSC Ensembl
Outerchr1:244882035..244906352hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811485
hg1911485
hg1811485
hg1711485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11211, nssv6241, nssv5113, nssv3849
SamplesNA15510, NA19129, NA12156, NA12878
Known GenesOR2T1
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)nsv5343
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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