A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8111



Internal ID15189067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:219199699..219244457hg38UCSC Ensembl
Outerchr1:219373041..219417799hg19UCSC Ensembl
Outerchr1:217439664..217484422hg18UCSC Ensembl
Outerchr1:215761436..215806194hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3844759
hg1944759
hg1844759
hg1744759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4620
Supporting Variants
SamplesNA12156
Known GenesLYPLAL1
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)nssv8111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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