A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2298



Internal ID15193913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109626467..109649979hg38UCSC Ensembl
Outerchr1:110169089..110192601hg19UCSC Ensembl
Outerchr1:109970612..109994124hg18UCSC Ensembl
Outerchr1:109881131..109904643hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3823513
hg1923513
hg1823513
hg1723513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2299
Supporting Variants
SamplesNA18555
Known GenesAMPD2
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)nssv2298
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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