A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2276



Internal ID15546839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108337422..108468532hg38UCSC Ensembl
Outerchr1:108880044..109011154hg19UCSC Ensembl
Outerchr1:108681567..108812677hg18UCSC Ensembl
Outerchr1:108592086..108723196hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38131111
hg19131111
hg18131111
hg17131111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5761, nssv10182
SamplesNA18956, NA19129
Known GenesNBPF6
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)nsv2276
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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