A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2230



Internal ID15546793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24494163..24529398hg38UCSC Ensembl
Outerchr18:22074127..22109362hg19UCSC Ensembl
Outerchr18:20328125..20363360hg18UCSC Ensembl
Outerchr18:20328125..20363360hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg385776
hg195776
hg185776
hg175776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1399, nssv7372
SamplesNA12156, NA19240
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)nsv2230
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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