A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1400



Internal ID15544311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28678994..28723704hg38UCSC Ensembl
Outerchr18:26258958..26303668hg19UCSC Ensembl
Outerchr18:24512956..24557666hg18UCSC Ensembl
Outerchr18:24512956..24557666hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3844711
hg1944711
hg1844711
hg1744711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2237
Supporting Variants
SamplesNA19240
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)nssv1400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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