A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2399



Internal ID15540736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68584990..68604412hg38UCSC Ensembl
Outerchr3:68634141..68653563hg19UCSC Ensembl
Outerchr3:68716831..68736253hg18UCSC Ensembl
Outerchr3:68716831..68736253hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3819423
hg1919423
hg1819423
hg1719423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3862
Supporting Variants
SamplesNA18555
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)nssv2399
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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