A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5815



Internal ID15543584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125683769..125697278hg38UCSC Ensembl
Outerchr2:126441346..126454855hg19UCSC Ensembl
Outerchr2:126157816..126171325hg18UCSC Ensembl
Outerchr2:126157576..126171085hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3813510
hg1913510
hg1813510
hg1713510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2904
Supporting Variants
SamplesNA19129
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)nssv5815
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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