A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5021



Internal ID5084789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:237006779..237032072hg19UCSC Ensembl
Outerchr1:235073402..235098695hg18UCSC Ensembl
Outerchr1:233332820..233358113hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg195363
hg185363
hg175363
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8212
SamplesNA12156
Known GenesMTR
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
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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