A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688



Internal ID15550522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32190862..32224809hg38UCSC Ensembl
Outerchr7:32230474..32264421hg19UCSC Ensembl
Outerchr7:32196999..32230946hg18UCSC Ensembl
Outerchr7:32003714..32037661hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg385482
hg195482
hg185482
hg175482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8355
SamplesNA12156
Known GenesPDE1C
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)nsv5688
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