A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3402



Internal ID15191444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168293451..168317522hg38UCSC Ensembl
Outerchr5:167720456..167744527hg19UCSC Ensembl
Outerchr5:167653034..167677105hg18UCSC Ensembl
Outerchr5:167653034..167677105hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg388434
hg198434
hg188434
hg178434
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5118
Supporting Variants
SamplesNA12878
Known GenesWWC1
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)nssv3402
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