A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522



Internal ID15548140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39122672..39130644hg38UCSC Ensembl
Outerchr21:40494598..40502570hg19UCSC Ensembl
Outerchr21:39416468..39424440hg18UCSC Ensembl
Outerchr21:39416468..39424440hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4556
SamplesNA12878
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)nsv3522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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