A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2343



Internal ID15200220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110089616..110125340hg38UCSC Ensembl
Outerchr1:110632238..110667962hg19UCSC Ensembl
Outerchr1:110433761..110469485hg18UCSC Ensembl
Outerchr1:110344280..110380004hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384669
hg194669
hg184669
hg174669
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3043, nssv4489, nssv5774
SamplesNA19129, NA12878, NA18555
Known GenesUBL4B
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)nsv2343
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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