A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv322



Internal ID15201121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32758359..32781995hg38UCSC Ensembl
Outerchr1:33223960..33247596hg19UCSC Ensembl
Outerchr1:32996547..33020183hg18UCSC Ensembl
Outerchr1:32893053..32916689hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3823637
hg1923637
hg1823637
hg1723637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8957
SamplesNA12156
Known GenesKIAA1522, YARS
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)nsv322
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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