A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3421



Internal ID15201343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167194524..167224129hg38UCSC Ensembl
Outerchr1:167163761..167193366hg19UCSC Ensembl
Outerchr1:165430385..165459990hg18UCSC Ensembl
Outerchr1:163895419..163925024hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg385763
hg195763
hg185763
hg175763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9886, nssv7762, nssv2704, nssv3501, nssv10331
SamplesNA18507, NA18956, NA12156, NA12878, NA18555
Known GenesPOU2F1
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)nsv3421
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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