A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5321



Internal ID15203433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247879694..247915649hg38UCSC Ensembl
Outerchr1:248042996..248078951hg19UCSC Ensembl
Outerchr1:246109619..246145574hg18UCSC Ensembl
Outerchr1:244369037..244404992hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3835956
hg1935956
hg1835956
hg1735956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5104, nssv8310
SamplesNA19129, NA12156
Known GenesOR2W3, TRIM58
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)nsv5321
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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