A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4341



Internal ID15549041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54305918..54351488hg38UCSC Ensembl
Outerchr4:55172085..55217655hg19UCSC Ensembl
Outerchr4:54866842..54912412hg18UCSC Ensembl
Outerchr4:55013013..55058583hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3845571
hg1945571
hg1845571
hg1745571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7089
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)nsv4341
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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