A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7344



Internal ID15552344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47793543..47899155hg38UCSC Ensembl
Outerchr20:46422287..46527899hg19UCSC Ensembl
Outerchr20:45855694..45961306hg18UCSC Ensembl
Outerchr20:45855694..45961306hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38105613
hg19105613
hg18105613
hg17105613
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4540, nssv2335, nssv4538, nssv10295
SamplesNA12878, NA18956, NA18555
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)nsv7344
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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