A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4196



Internal ID15202195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:961755..1004599hg38UCSC Ensembl
Outerchr4:955543..998387hg19UCSC Ensembl
Outerchr4:945543..988387hg18UCSC Ensembl
Outerchr4:945373..988217hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3842845
hg1942845
hg1842845
hg1742845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7916
SamplesNA12156
Known GenesDGKQ, IDUA, SLC26A1
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)nsv4196
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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