A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2302



Internal ID15546865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50438260..50462429hg38UCSC Ensembl
Outerchr18:47964630..47988799hg19UCSC Ensembl
Outerchr18:46218628..46242797hg18UCSC Ensembl
Outerchr18:46218628..46242797hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387584
hg197584
hg187584
hg177584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1410, nssv4325, nssv5701, nssv2196
SamplesNA12878, 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)nsv2302
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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