A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4852



Internal ID15549603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60776226..60808527hg38UCSC Ensembl
Outerchr5:60072053..60104354hg19UCSC Ensembl
Outerchr5:60107810..60140111hg18UCSC Ensembl
Outerchr5:60107810..60140111hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg387446
hg197446
hg187446
hg177446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3354
SamplesNA12878
Known GenesELOVL7
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)nsv4852
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