A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2341



Internal ID15546904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:67278287..67312006hg38UCSC Ensembl
Outerchr18:64945524..64979243hg19UCSC Ensembl
Outerchr18:63096504..63130223hg18UCSC Ensembl
Outerchr18:63096504..63130223hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3833720
hg1933720
hg1833720
hg1733720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419, nssv2199
SamplesNA18555, NA19240
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)nsv2341
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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