A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4958



Internal ID15203033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111682383..111715191hg38UCSC Ensembl
Outerchr5:111018080..111050888hg19UCSC Ensembl
Outerchr5:111045979..111078787hg18UCSC Ensembl
Outerchr5:111045979..111078787hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg388174
hg198174
hg188174
hg178174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv487
SamplesNA19240
Known GenesSTARD4-AS1
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)nsv4958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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