A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4415



Internal ID15549122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88162344..88181416hg38UCSC Ensembl
Outerchr4:89083496..89102568hg19UCSC Ensembl
Outerchr4:89302520..89321592hg18UCSC Ensembl
Outerchr4:89440675..89459747hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3270, nssv4764
SamplesNA12878, NA19129
Known GenesABCG2
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)nsv4415
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer