A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4002



Internal ID15548668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130285332..130308426hg38UCSC Ensembl
Outerchr3:130004175..130027269hg19UCSC Ensembl
Outerchr3:131486865..131509959hg18UCSC Ensembl
Outerchr3:131486873..131509967hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3813596
hg1913596
hg1813596
hg1713596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9627
SamplesNA18507
Known Genes
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)nsv4002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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