A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5819



Internal ID15543580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:137232135..137276887hg38UCSC Ensembl
Outerchr2:137989705..138034457hg19UCSC Ensembl
Outerchr2:137706175..137750927hg18UCSC Ensembl
Outerchr2:137823437..137868189hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3844753
hg1944753
hg1844753
hg1744753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2944
Supporting Variants
SamplesNA19129
Known GenesTHSD7B
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)nssv5819
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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