A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215



Internal ID8514784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233722477..233761630hg38UCSC Ensembl
Outerchr2:234631123..234670276hg19UCSC Ensembl
Outerchr2:234295862..234335015hg18UCSC Ensembl
Outerchr2:234413123..234452276hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3839154
hg1939154
hg1839154
hg1739154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9361
SamplesNA18517
Known GenesDNAJB3, LOC100286922, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)nsv3215
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer