A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1627



Internal ID15198756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39990629..40031600hg38UCSC Ensembl
Outerchr21:41362556..41403527hg19UCSC Ensembl
Outerchr21:40284426..40325397hg18UCSC Ensembl
Outerchr21:40284426..40325397hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3840972
hg1940972
hg1840972
hg1740972
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7346
Supporting Variants
SamplesNA19240
Known GenesDSCAM
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)nssv1627
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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