A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4489



Internal ID15549203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120190131..120223899hg38UCSC Ensembl
Outerchr4:121111286..121145054hg19UCSC Ensembl
Outerchr4:121330736..121364504hg18UCSC Ensembl
Outerchr4:121468891..121502659hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg387056
hg197056
hg187056
hg177056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11090, nssv4780, nssv411, nssv7118, nssv3137
SamplesNA12156, NA15510, NA18555, NA19240, NA19129
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)nsv4489
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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