A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4548



Internal ID15202582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150945862..150986878hg38UCSC Ensembl
Outerchr4:151867014..151908030hg19UCSC Ensembl
Outerchr4:152086464..152127480hg18UCSC Ensembl
Outerchr4:152224619..152265635hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3841017
hg1941017
hg1841017
hg1741017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4788, nssv420
SamplesNA19129, NA19240
Known GenesLRBA
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)nsv4548
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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