A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1624



Internal ID15545445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33449048..33479237hg38UCSC Ensembl
Outerchr21:34821355..34851544hg19UCSC Ensembl
Outerchr21:33743225..33773414hg18UCSC Ensembl
Outerchr21:33743225..33773414hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389575
hg199575
hg189575
hg179575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA19240
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)nssv1624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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