A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7346



Internal ID15205660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39989557..40076357hg38UCSC Ensembl
Outerchr21:41361484..41448284hg19UCSC Ensembl
Outerchr21:40283354..40370154hg18UCSC Ensembl
Outerchr21:40283354..40370154hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3886801
hg1986801
hg1886801
hg1786801
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1627, nssv10313, nssv4558, nssv9369
SamplesNA12878, NA18956, NA18517, NA19240
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)nsv7346
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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