A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7743



Internal ID15536121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:34963063..34997090hg38UCSC Ensembl
Outerchr22:35359052..35393079hg19UCSC Ensembl
Outerchr22:33689052..33723079hg18UCSC Ensembl
Outerchr22:33683606..33717633hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385412
hg195412
hg185412
hg175412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3608
Supporting Variants
SamplesNA12156
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)nssv7743
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