A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4558



Internal ID15192599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40031333..40070145hg38UCSC Ensembl
Outerchr21:41403260..41442072hg19UCSC Ensembl
Outerchr21:40325130..40363942hg18UCSC Ensembl
Outerchr21:40325130..40363942hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3838813
hg1938813
hg1838813
hg1738813
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7346
Supporting Variants
SamplesNA12878
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)nssv4558
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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