A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4497



Internal ID15549212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:123103720..123148609hg38UCSC Ensembl
Outerchr4:124024875..124069764hg19UCSC Ensembl
Outerchr4:124244325..124289214hg18UCSC Ensembl
Outerchr4:124382480..124427369hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3844890
hg1944890
hg1844890
hg1744890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8000
SamplesNA12156
Known GenesSPATA5
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)nsv4497
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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