A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5849



Internal ID15550699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94030532..94064259hg38UCSC Ensembl
Outerchr7:93659844..93693571hg19UCSC Ensembl
Outerchr7:93497780..93531507hg18UCSC Ensembl
Outerchr7:93304495..93338222hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385560
hg195560
hg185560
hg175560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5005
SamplesNA19129
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)nsv5849
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