A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4546



Internal ID15202580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150239045..150274981hg38UCSC Ensembl
Outerchr4:151160197..151196133hg19UCSC Ensembl
Outerchr4:151379647..151415583hg18UCSC Ensembl
Outerchr4:151517802..151553738hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386279
hg196279
hg186279
hg176279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3294, nssv4787, nssv419, nssv11092
SamplesNA15510, NA19129, NA12878, NA19240
Known GenesDCLK2, LRBA
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)nsv4546
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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