A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4657



Internal ID15543227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230688457..230706135hg38UCSC Ensembl
Outerchr2:231553172..231570850hg19UCSC Ensembl
Outerchr2:231261416..231279094hg18UCSC Ensembl
Outerchr2:231378677..231396355hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3817679
hg1917679
hg1817679
hg1717679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202
Supporting Variants
SamplesNA19129
Known GenesLOC151475
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)nssv4657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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