A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5621



Internal ID15197133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88729848..88743583hg38UCSC Ensembl
Outerchr16:88796256..88809991hg19UCSC Ensembl
Outerchr16:87323757..87337492hg18UCSC Ensembl
Outerchr16:87323757..87337492hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg388286
hg198286
hg188286
hg178286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1927
Supporting Variants
SamplesNA19129
Known GenesLOC100289580, PIEZO1
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)nssv5621
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