A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4759



Internal ID15196521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160253051..160298030hg38UCSC Ensembl
Outerchr1:160222841..160267820hg19UCSC Ensembl
Outerchr1:158489465..158534444hg18UCSC Ensembl
Outerchr1:157035914..157080893hg17UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3844980
hg1944980
hg1844980
hg1744980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210
Supporting Variants
SamplesNA19129
Known GenesCOPA, DCAF8, PEX19
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)nssv4759
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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