A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5021



Internal ID8516771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236843479..236868772hg38UCSC Ensembl
Outerchr1:237006779..237032072hg19UCSC Ensembl
Outerchr1:235073402..235098695hg18UCSC Ensembl
Outerchr1:233332820..233358113hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3825294
hg1925294
hg1825294
hg1725294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8212
SamplesNA12156
Known GenesMTR
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)nsv5021
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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