A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4390



Internal ID15549095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:74686225..74746549hg38UCSC Ensembl
Outerchr4:75611427..75671759hg19UCSC Ensembl
Outerchr4:75830451..75890783hg18UCSC Ensembl
Outerchr4:75968606..76028938hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3860325
hg1960333
hg1860333
hg1760333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9396, nssv9644, nssv4754, nssv3262, nssv392, nssv7098, nssv10409
SamplesNA18507, NA12156, NA12878, NA18956, NA18517, NA19240, NA19129
Known GenesBTC
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)nsv4390
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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