A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8101



Internal ID15189077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44307243..44351910hg38UCSC Ensembl
Outerchr5:44307345..44352012hg19UCSC Ensembl
Outerchr5:44343102..44387769hg18UCSC Ensembl
Outerchr5:44343102..44387769hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3844668
hg1944668
hg1844668
hg1744668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4816
Supporting Variants
SamplesNA12156
Known GenesFGF10
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)nssv8101
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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