A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4564



Internal ID15192605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46168351..46180400hg38UCSC Ensembl
Outerchr21:47588265..47600314hg19UCSC Ensembl
Outerchr21:46412693..46424742hg18UCSC Ensembl
Outerchr21:46412693..46424742hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386274
hg196274
hg186274
hg176274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3545
Supporting Variants
SamplesNA12878
Known GenesSPATC1L
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)nssv4564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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