A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5900



Internal ID15543482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33459367..33480906hg38UCSC Ensembl
Outerchr21:34831674..34853213hg19UCSC Ensembl
Outerchr21:33753544..33775083hg18UCSC Ensembl
Outerchr21:33753544..33775083hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg388853
hg198853
hg188853
hg178853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA19129
Known GenesTMEM50B
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)nssv5900
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