A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4547



Internal ID15202581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150565128..150610327hg38UCSC Ensembl
Outerchr4:151486280..151531479hg19UCSC Ensembl
Outerchr4:151705730..151750929hg18UCSC Ensembl
Outerchr4:151843885..151889084hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3845200
hg1945200
hg1845200
hg1745200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8011
SamplesNA12156
Known GenesLRBA, MAB21L2
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)nsv4547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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