A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1626



Internal ID15545443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39949224..39983285hg38UCSC Ensembl
Outerchr21:41321151..41355212hg19UCSC Ensembl
Outerchr21:40243021..40277082hg18UCSC Ensembl
Outerchr21:40243021..40277082hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg386931
hg196931
hg186931
hg176931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3524
Supporting Variants
SamplesNA19240
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)nssv1626
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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