A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3456



Internal ID15548067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14425997..14458048hg38UCSC Ensembl
Outerchr21:15798318..15830369hg19UCSC Ensembl
Outerchr21:14720189..14752240hg18UCSC Ensembl
Outerchr21:14720189..14752240hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3812498
hg1912498
hg1812498
hg1712498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4550, nssv10306, nssv5892, nssv2344, nssv6952, nssv9602, nssv1617
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA19240, NA19129
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)nsv3456
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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