A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7442



Internal ID15189736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109610296..109655301hg38UCSC Ensembl
Outerchr1:110152918..110197923hg19UCSC Ensembl
Outerchr1:109954441..109999446hg18UCSC Ensembl
Outerchr1:109864960..109909965hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3845006
hg1945006
hg1845006
hg1745006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2299
Supporting Variants
SamplesNA12156
Known GenesAMPD2, GNAT2
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)nssv7442
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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