A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4001



Internal ID15548667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130022760..130110644hg38UCSC Ensembl
Outerchr3:129741603..129829487hg19UCSC Ensembl
Outerchr3:131224293..131312177hg18UCSC Ensembl
Outerchr3:131224301..131312185hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3887885
hg1987885
hg1887885
hg1787885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7033, nssv2414, nssv3196
SamplesNA12156, NA12878, NA18555
Known GenesALG1L2, FAM86HP
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)nsv4001
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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