A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1558



Internal ID15545518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179192742..179228933hg38UCSC Ensembl
Outerchr2:180057469..180093660hg19UCSC Ensembl
Outerchr2:179765714..179801905hg18UCSC Ensembl
Outerchr2:179882975..179919166hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3836192
hg1936192
hg1836192
hg1736192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3061
Supporting Variants
SamplesNA19240
Known GenesSESTD1
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)nssv1558
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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