A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5930



Internal ID15543445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32940754..32972644hg38UCSC Ensembl
Outerchr22:33336739..33368629hg19UCSC Ensembl
Outerchr22:31666739..31698629hg18UCSC Ensembl
Outerchr22:31661293..31693183hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387388
hg197388
hg187388
hg177388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3600
Supporting Variants
SamplesNA19129
Known GenesSYN3
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)nssv5930
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