A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2244



Internal ID15200121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31055588..31086414hg38UCSC Ensembl
Outerchr18:28635554..28666380hg19UCSC Ensembl
Outerchr18:26889552..26920378hg18UCSC Ensembl
Outerchr18:26889552..26920378hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3830827
hg1930827
hg1830827
hg1730827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7377
SamplesNA12156
Known GenesDSC2
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)nsv2244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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