A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2237



Internal ID15546800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28655619..28723704hg38UCSC Ensembl
Outerchr18:26235583..26303668hg19UCSC Ensembl
Outerchr18:24489581..24557666hg18UCSC Ensembl
Outerchr18:24489581..24557666hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3868086
hg1968086
hg1868086
hg1768086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10153, nssv2192, nssv1400
SamplesNA18956, NA18555, 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)nsv2237
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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