A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1533



Internal ID15545546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118886101..118914471hg38UCSC Ensembl
Outerchr2:119643677..119672047hg19UCSC Ensembl
Outerchr2:119360147..119388517hg18UCSC Ensembl
Outerchr2:119359907..119388277hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3828371
hg1928371
hg1828371
hg1728371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2892
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1533
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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