A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3513



Internal ID15548130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37946068..37951265hg38UCSC Ensembl
Outerchr21:39318371..39323568hg19UCSC Ensembl
Outerchr21:38240241..38245438hg18UCSC Ensembl
Outerchr21:38240241..38245438hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg386713
hg196713
hg186713
hg176713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6957
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)nsv3513
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