A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4344



Internal ID15549044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54394440..54439068hg38UCSC Ensembl
Outerchr4:55260607..55305235hg19UCSC Ensembl
Outerchr4:54955364..54999992hg18UCSC Ensembl
Outerchr4:55101535..55146163hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3844629
hg1944629
hg1844629
hg1744629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7955
SamplesNA12156
Known Genes
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)nsv4344
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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