A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv372



Internal ID15198182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184834286..184859152hg38UCSC Ensembl
Outerchr1:184803420..184828286hg19UCSC Ensembl
Outerchr1:183070043..183094909hg18UCSC Ensembl
Outerchr1:181535077..181559943hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3824867
hg1924867
hg1824867
hg1724867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3843
Supporting Variants
SamplesNA19240
Known GenesFAM129A
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)nssv372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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