A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3421



Internal ID5085683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167163761..167193366hg19UCSC Ensembl
Outerchr1:165430385..165459990hg18UCSC Ensembl
Outerchr1:163895419..163925024hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv9886, nssv7762, nssv2704, nssv3501, nssv10331
SamplesNA18507, NA18956, NA12156, NA12878, NA18555
Known GenesPOU2F1
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)nsv3421
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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