A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4594



Internal ID15549319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:167297507..167328297hg38UCSC Ensembl
Outerchr4:168218658..168249448hg19UCSC Ensembl
Outerchr4:168455233..168486023hg18UCSC Ensembl
Outerchr4:168593388..168624178hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg388703
hg198703
hg188703
hg178703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10428
SamplesNA18956
Known Genes
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)nsv4594
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