A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7596



Internal ID15536268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198653891..198698767hg38UCSC Ensembl
Outerchr2:199518615..199563491hg19UCSC Ensembl
Outerchr2:199226860..199271736hg18UCSC Ensembl
Outerchr2:199344121..199388997hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3844877
hg1944877
hg1844877
hg1744877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3103
Supporting Variants
SamplesNA12156
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)nssv7596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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